Canonical Allele Identifier: CA1129598210
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1564367422

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515872_131515873insAACAGGACACTTCCTCACACGGAGCACTTCCT , CM000671.2:g.131515872_131515873insAACAGGACACTTCCTCACACGGAGCACTTCCT GRCh38
NC_000009.11:g.134391259_134391260insAACAGGACACTTCCTCACACGGAGCACTTCCT , CM000671.1:g.134391259_134391260insAACAGGACACTTCCTCACACGGAGCACTTCCT GRCh37
NC_000009.10:g.133381080_133381081insAACAGGACACTTCCTCACACGGAGCACTTCCT NCBI36
NG_008896.1:g.17971_17972insAACAGGACACTTCCTCACACGGAGCACTTCCT
NG_008896.2:g.17971_17972insAACAGGACACTTCCTCACACGGAGCACTTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+350_1110+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000343034.7:n.1110+350_1110+351insAACAGGACACTTCCTCACACG...
ENST00000404875.7:n.1812+350_1812+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000423007.6:c.1329+350_1329+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000404119.2:n.1329+350_1329+351insAACAGGACACTTCCTCACACG...
ENST00000677295.2:c.*1616+350_*1616+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000504346.2:n.*1616+350_*1616+351insAACAGGACACTTCCTCACA...
ENST00000678264.2:c.*1455+350_*1455+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000503157.2:n.*1455+350_*1455+351insAACAGGACACTTCCTCACA...
ENST00000682070.1:n.1737+350_1737+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000682539.1:c.97+350_97+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000682813.1:n.1537+350_1537+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000683392.1:n.4019+350_4019+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000683712.1:n.1677+350_1677+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000683900.1:n.3172+350_3172+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000684062.1:n.1938+350_1938+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000684579.1:n.3118+350_3118+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000341012.12:c.1110+350_1110+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000343034.7:n.1110+350_1110+351insAACAGGACACTTCCTCACACG...
ENST00000372220.5:c.141+350_141+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000361294.5:n.141+350_141+351insAACAGGACACTTCCTCACACGGA...
ENST00000372228.9:c.1338+350_1338+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000361302.3:n.1338+350_1338+351insAACAGGACACTTCCTCACACG...
ENST00000402686.8:c.1272+350_1272+351insAACAGGACACTTCCTCACACGGAGCACTTCCT MANE Select ENSP00000385797.4:n.1272+350_1272+351insAACAGGACACTTCCTCACACG...
ENST00000676640.1:c.1272+350_1272+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000503281.1:n.1272+350_1272+351insAACAGGACACTTCCTCACACG...
ENST00000676803.1:c.447+350_447+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000503093.1:n.447+350_447+351insAACAGGACACTTCCTCACACGGA...
ENST00000676835.1:c.*487+350_*487+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000502911.1:n.*487+350_*487+351insAACAGGACACTTCCTCACACG...
ENST00000677029.1:c.816+350_816+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000502936.1:n.816+350_816+351insAACAGGACACTTCCTCACACGGA...
ENST00000677099.1:c.*982+350_*982+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000504553.1:n.*982+350_*982+351insAACAGGACACTTCCTCACACG...
ENST00000677216.1:c.921+350_921+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000503772.1:n.921+350_921+351insAACAGGACACTTCCTCACACGGA...
ENST00000677295.1:c.*649+350_*649+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000504346.1:n.*649+350_*649+351insAACAGGACACTTCCTCACACG...
ENST00000677444.1:c.1078+350_1078+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000677586.1:n.753+350_753+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000677626.1:c.921+350_921+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000503552.1:n.921+350_921+351insAACAGGACACTTCCTCACACGGA...
ENST00000677677.1:n.1232+350_1232+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000677853.1:c.*280+350_*280+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000503488.1:n.*280+350_*280+351insAACAGGACACTTCCTCACACG...
ENST00000677944.1:c.534+350_534+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000678264.1:c.*649+350_*649+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000503157.1:n.*649+350_*649+351insAACAGGACACTTCCTCACACG...
ENST00000678303.1:c.1182+350_1182+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000503696.1:n.1182+350_1182+351insAACAGGACACTTCCTCACACG...
ENST00000678366.1:c.*1521+350_*1521+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000504353.1:n.*1521+350_*1521+351insAACAGGACACTTCCTCACA...
ENST00000678546.1:c.*1217+350_*1217+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000503062.1:n.*1217+350_*1217+351insAACAGGACACTTCCTCACA...
ENST00000678548.1:c.*1344+350_*1344+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000503934.1:n.*1344+350_*1344+351insAACAGGACACTTCCTCACA...
ENST00000678626.1:n.969+350_969+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000678733.1:c.353+350_353+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000678739.1:c.*1598+350_*1598+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000503806.1:n.*1598+350_*1598+351insAACAGGACACTTCCTCACA...
ENST00000678795.1:n.359+350_359+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000678833.1:c.*719+350_*719+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000503893.1:n.*719+350_*719+351insAACAGGACACTTCCTCACACG...
ENST00000678942.1:c.452+350_452+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000504690.1:n.452+350_452+351insAACAGGACACTTCCTCACACGGA...
ENST00000679023.1:c.1110+350_1110+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000503718.1:n.1110+350_1110+351insAACAGGACACTTCCTCACACG...
ENST00000679076.1:c.891+350_891+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
ENST00000679111.1:c.1272+350_1272+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000504257.1:n.1272+350_1272+351insAACAGGACACTTCCTCACACG...
ENST00000679189.1:c.921+350_921+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000503356.1:n.921+350_921+351insAACAGGACACTTCCTCACACGGA...
ENST00000341012.11:c.1110+350_1110+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000343034.7:n.1110+350_1110+351insAACAGGACACTTCCTCACACG...
ENST00000372228.7:c.1338+350_1338+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000361302.3:n.1338+350_1338+351insAACAGGACACTTCCTCACACG...
ENST00000402686.7:c.1272+350_1272+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000385797.3:n.1272+350_1272+351insAACAGGACACTTCCTCACACG...
ENST00000404875.6:c.921+350_921+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000384531.2:n.921+350_921+351insAACAGGACACTTCCTCACACGGA...
ENST00000423007.5:c.1272+350_1272+351insAACAGGACACTTCCTCACACGGAGCACTTCCT ENSP00000404119.1:n.1272+350_1272+351insAACAGGACACTTCCTCACACG...
ENST00000485278.5:n.1827+350_1827+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NM_001077365.1:c.1272+350_1272+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001070833.1:n.1272+350_1272+351insAACAGGACACTTCCTCACACGGAG...
NM_001077366.1:c.1110+350_1110+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001070834.1:n.1110+350_1110+351insAACAGGACACTTCCTCACACGGAG...
NM_001136113.1:c.1272+350_1272+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001129585.1:n.1272+350_1272+351insAACAGGACACTTCCTCACACGGAG...
NM_001136114.1:c.921+350_921+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001129586.1:n.921+350_921+351insAACAGGACACTTCCTCACACGGAGCA...
NM_007171.3:c.1338+350_1338+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_009102.3:n.1338+350_1338+351insAACAGGACACTTCCTCACACGGAGCAC...
XM_005272156.1:c.1338+350_1338+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_005272213.1:n.1338+350_1338+351insAACAGGACACTTCCTCACACGGAG...
XM_005272158.1:c.1176+350_1176+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_005272215.1:n.1176+350_1176+351insAACAGGACACTTCCTCACACGGAG...
XM_005272159.1:c.987+350_987+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_005272216.1:n.987+350_987+351insAACAGGACACTTCCTCACACGGAGCA...
XM_005272162.1:c.141+350_141+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_005272219.1:n.141+350_141+351insAACAGGACACTTCCTCACACGGAGCA...
XM_006716932.1:c.987+350_987+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_006716995.1:n.987+350_987+351insAACAGGACACTTCCTCACACGGAGCA...
XM_011518140.1:c.1191+350_1191+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_011516442.1:n.1191+350_1191+351insAACAGGACACTTCCTCACACGGAG...
XM_011518141.1:c.1125+350_1125+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_011516443.1:n.1125+350_1125+351insAACAGGACACTTCCTCACACGGAG...
XM_011518142.1:c.1029+350_1029+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_011516444.1:n.1029+350_1029+351insAACAGGACACTTCCTCACACGGAG...
XM_011518143.1:c.1023+350_1023+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_011516445.1:n.1023+350_1023+351insAACAGGACACTTCCTCACACGGAG...
XM_011518144.1:c.1338+350_1338+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_011516446.1:n.1338+350_1338+351insAACAGGACACTTCCTCACACGGAG...
XM_011518145.1:c.882+350_882+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_011516447.1:n.882+350_882+351insAACAGGACACTTCCTCACACGGAGCA...
XM_011518146.1:c.1023+350_1023+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_011516448.1:n.1023+350_1023+351insAACAGGACACTTCCTCACACGGAG...
XR_929703.1:n.1514+350_1514+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NM_001353193.1:c.1338+350_1338+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340122.1:n.1338+350_1338+351insAACAGGACACTTCCTCACACGGAG...
NM_001353194.1:c.1110+350_1110+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340123.1:n.1110+350_1110+351insAACAGGACACTTCCTCACACGGAG...
NM_001353195.1:c.921+350_921+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340124.1:n.921+350_921+351insAACAGGACACTTCCTCACACGGAGCA...
NM_001353196.1:c.1182+350_1182+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340125.1:n.1182+350_1182+351insAACAGGACACTTCCTCACACGGAG...
NM_001353197.1:c.1176+350_1176+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340126.1:n.1176+350_1176+351insAACAGGACACTTCCTCACACGGAG...
NM_001353198.1:c.1176+350_1176+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340127.1:n.1176+350_1176+351insAACAGGACACTTCCTCACACGGAG...
NM_001353199.1:c.987+350_987+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340128.1:n.987+350_987+351insAACAGGACACTTCCTCACACGGAGCA...
NM_001353200.1:c.816+350_816+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340129.1:n.816+350_816+351insAACAGGACACTTCCTCACACGGAGCA...
NR_148391.1:n.1322+350_1322+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148392.1:n.1540+350_1540+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148393.1:n.1322+350_1322+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148394.1:n.1215+350_1215+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148395.1:n.1474+350_1474+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148396.1:n.1108+350_1108+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148397.1:n.1372+350_1372+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148398.1:n.1327+350_1327+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148399.1:n.1714+350_1714+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148400.1:n.1313+350_1313+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
XM_005272162.3:c.141+350_141+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_005272219.1:n.141+350_141+351insAACAGGACACTTCCTCACACGGAGCA...
XM_006716932.2:c.987+350_987+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_006716995.1:n.987+350_987+351insAACAGGACACTTCCTCACACGGAGCA...
XM_011518140.2:c.1191+350_1191+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_011516442.1:n.1191+350_1191+351insAACAGGACACTTCCTCACACGGAG...
XM_011518141.2:c.1125+350_1125+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_011516443.1:n.1125+350_1125+351insAACAGGACACTTCCTCACACGGAG...
XM_011518142.2:c.1029+350_1029+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_011516444.1:n.1029+350_1029+351insAACAGGACACTTCCTCACACGGAG...
XM_011518143.2:c.1023+350_1023+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_011516445.1:n.1023+350_1023+351insAACAGGACACTTCCTCACACGGAG...
XM_011518145.2:c.882+350_882+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_011516447.1:n.882+350_882+351insAACAGGACACTTCCTCACACGGAGCA...
XM_017014205.2:c.141+350_141+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_016869694.1:n.141+350_141+351insAACAGGACACTTCCTCACACGGAGCA...
XM_024447380.1:c.141+350_141+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_024303148.1:n.141+350_141+351insAACAGGACACTTCCTCACACGGAGCA...
XM_024447381.1:c.447+350_447+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_024303149.1:n.447+350_447+351insAACAGGACACTTCCTCACACGGAGCA...
XM_024447382.1:c.141+350_141+351insAACAGGACACTTCCTCACACGGAGCACTTCCT XP_024303150.1:n.141+350_141+351insAACAGGACACTTCCTCACACGGAGCA...
XR_001746160.2:n.1442+350_1442+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
XR_001746162.2:n.1508+350_1508+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
XR_001746164.1:n.1225+350_1225+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
XR_001746166.2:n.1659+350_1659+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NM_001077365.2:c.1272+350_1272+351insAACAGGACACTTCCTCACACGGAGCACTTCCT MANE Select NP_001070833.1:n.1272+350_1272+351insAACAGGACACTTCCTCACACGGAG...
NM_001077366.2:c.1110+350_1110+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001070834.1:n.1110+350_1110+351insAACAGGACACTTCCTCACACGGAG...
NM_001136113.2:c.1272+350_1272+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001129585.1:n.1272+350_1272+351insAACAGGACACTTCCTCACACGGAG...
NM_001136114.2:c.921+350_921+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001129586.1:n.921+350_921+351insAACAGGACACTTCCTCACACGGAGCA...
NM_001353193.2:c.1338+350_1338+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340122.2:n.1338+350_1338+351insAACAGGACACTTCCTCACACGGAG...
NM_001353194.2:c.1110+350_1110+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340123.1:n.1110+350_1110+351insAACAGGACACTTCCTCACACGGAG...
NM_001353195.2:c.921+350_921+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340124.1:n.921+350_921+351insAACAGGACACTTCCTCACACGGAGCA...
NM_001353196.2:c.1182+350_1182+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340125.1:n.1182+350_1182+351insAACAGGACACTTCCTCACACGGAG...
NM_001353197.2:c.1176+350_1176+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340126.2:n.1176+350_1176+351insAACAGGACACTTCCTCACACGGAG...
NM_001353198.2:c.1176+350_1176+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340127.2:n.1176+350_1176+351insAACAGGACACTTCCTCACACGGAG...
NM_001353199.2:c.987+350_987+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340128.2:n.987+350_987+351insAACAGGACACTTCCTCACACGGAGCA...
NM_001353200.2:c.816+350_816+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001340129.1:n.816+350_816+351insAACAGGACACTTCCTCACACGGAGCA...
NM_001374689.1:c.1260+350_1260+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001361618.1:n.1260+350_1260+351insAACAGGACACTTCCTCACACGGAG...
NM_001374690.1:c.1272+350_1272+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001361619.1:n.1272+350_1272+351insAACAGGACACTTCCTCACACGGAG...
NM_001374691.1:c.921+350_921+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001361620.1:n.921+350_921+351insAACAGGACACTTCCTCACACGGAGCA...
NM_001374692.1:c.921+350_921+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001361621.1:n.921+350_921+351insAACAGGACACTTCCTCACACGGAGCA...
NM_001374693.1:c.921+350_921+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001361622.1:n.921+350_921+351insAACAGGACACTTCCTCACACGGAGCA...
NM_001374695.1:c.882+350_882+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_001361624.1:n.882+350_882+351insAACAGGACACTTCCTCACACGGAGCA...
NM_007171.4:c.1338+350_1338+351insAACAGGACACTTCCTCACACGGAGCACTTCCT NP_009102.4:n.1338+350_1338+351insAACAGGACACTTCCTCACACGGAGCAC...
NR_148391.2:n.1306+350_1306+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148392.2:n.1524+350_1524+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148393.2:n.1306+350_1306+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148394.2:n.1199+350_1199+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148395.2:n.1458+350_1458+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148396.2:n.1092+350_1092+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148397.2:n.1356+350_1356+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148398.2:n.1311+350_1311+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148399.2:n.1698+350_1698+351insAACAGGACACTTCCTCACACGGAGCACTTCCT
NR_148400.2:n.1297+350_1297+351insAACAGGACACTTCCTCACACGGAGCACTTCCT