Canonical Allele Identifier: CA1129598070
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1948322643
gnomAD v3: 9-131515843-C-CA
gnomAD v4: 9-131515843-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515843_131515844insA , CM000671.2:g.131515843_131515844insA GRCh38
NC_000009.11:g.134391230_134391231insA , CM000671.1:g.134391230_134391231insA GRCh37
NC_000009.10:g.133381051_133381052insA NCBI36
NG_008896.1:g.17942_17943insA
NG_008896.2:g.17942_17943insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+321_1110+322insA ENSP00000343034.7:n.1110+321_1110+322insA
ENST00000404875.7:n.1812+321_1812+322insA
ENST00000423007.6:c.1329+321_1329+322insA ENSP00000404119.2:n.1329+321_1329+322insA
ENST00000677295.2:c.*1616+321_*1616+322insA ENSP00000504346.2:n.*1616+321_*1616+322insA
ENST00000678264.2:c.*1455+321_*1455+322insA ENSP00000503157.2:n.*1455+321_*1455+322insA
ENST00000682070.1:n.1737+321_1737+322insA
ENST00000682539.1:c.97+321_97+322insA
ENST00000682813.1:n.1537+321_1537+322insA
ENST00000683392.1:n.4019+321_4019+322insA
ENST00000683712.1:n.1677+321_1677+322insA
ENST00000683900.1:n.3172+321_3172+322insA
ENST00000684062.1:n.1938+321_1938+322insA
ENST00000684579.1:n.3118+321_3118+322insA
ENST00000341012.12:c.1110+321_1110+322insA ENSP00000343034.7:n.1110+321_1110+322insA
ENST00000372220.5:c.141+321_141+322insA ENSP00000361294.5:n.141+321_141+322insA
ENST00000372228.9:c.1338+321_1338+322insA ENSP00000361302.3:n.1338+321_1338+322insA
ENST00000402686.8:c.1272+321_1272+322insA MANE Select ENSP00000385797.4:n.1272+321_1272+322insA
ENST00000676640.1:c.1272+321_1272+322insA ENSP00000503281.1:n.1272+321_1272+322insA
ENST00000676803.1:c.447+321_447+322insA ENSP00000503093.1:n.447+321_447+322insA
ENST00000676835.1:c.*487+321_*487+322insA ENSP00000502911.1:n.*487+321_*487+322insA
ENST00000677029.1:c.816+321_816+322insA ENSP00000502936.1:n.816+321_816+322insA
ENST00000677099.1:c.*982+321_*982+322insA ENSP00000504553.1:n.*982+321_*982+322insA
ENST00000677216.1:c.921+321_921+322insA ENSP00000503772.1:n.921+321_921+322insA
ENST00000677295.1:c.*649+321_*649+322insA ENSP00000504346.1:n.*649+321_*649+322insA
ENST00000677444.1:c.1078+321_1078+322insA
ENST00000677586.1:n.753+321_753+322insA
ENST00000677626.1:c.921+321_921+322insA ENSP00000503552.1:n.921+321_921+322insA
ENST00000677677.1:n.1232+321_1232+322insA
ENST00000677853.1:c.*280+321_*280+322insA ENSP00000503488.1:n.*280+321_*280+322insA
ENST00000677944.1:c.534+321_534+322insA
ENST00000678264.1:c.*649+321_*649+322insA ENSP00000503157.1:n.*649+321_*649+322insA
ENST00000678303.1:c.1182+321_1182+322insA ENSP00000503696.1:n.1182+321_1182+322insA
ENST00000678366.1:c.*1521+321_*1521+322insA ENSP00000504353.1:n.*1521+321_*1521+322insA
ENST00000678546.1:c.*1217+321_*1217+322insA ENSP00000503062.1:n.*1217+321_*1217+322insA
ENST00000678548.1:c.*1344+321_*1344+322insA ENSP00000503934.1:n.*1344+321_*1344+322insA
ENST00000678626.1:n.969+321_969+322insA
ENST00000678733.1:c.353+321_353+322insA
ENST00000678739.1:c.*1598+321_*1598+322insA ENSP00000503806.1:n.*1598+321_*1598+322insA
ENST00000678795.1:n.359+321_359+322insA
ENST00000678833.1:c.*719+321_*719+322insA ENSP00000503893.1:n.*719+321_*719+322insA
ENST00000678942.1:c.452+321_452+322insA ENSP00000504690.1:n.452+321_452+322insA
ENST00000679023.1:c.1110+321_1110+322insA ENSP00000503718.1:n.1110+321_1110+322insA
ENST00000679076.1:c.891+321_891+322insA
ENST00000679111.1:c.1272+321_1272+322insA ENSP00000504257.1:n.1272+321_1272+322insA
ENST00000679189.1:c.921+321_921+322insA ENSP00000503356.1:n.921+321_921+322insA
ENST00000341012.11:c.1110+321_1110+322insA ENSP00000343034.7:n.1110+321_1110+322insA
ENST00000372228.7:c.1338+321_1338+322insA ENSP00000361302.3:n.1338+321_1338+322insA
ENST00000402686.7:c.1272+321_1272+322insA ENSP00000385797.3:n.1272+321_1272+322insA
ENST00000404875.6:c.921+321_921+322insA ENSP00000384531.2:n.921+321_921+322insA
ENST00000423007.5:c.1272+321_1272+322insA ENSP00000404119.1:n.1272+321_1272+322insA
ENST00000485278.5:n.1827+321_1827+322insA
NM_001077365.1:c.1272+321_1272+322insA NP_001070833.1:n.1272+321_1272+322insA
NM_001077366.1:c.1110+321_1110+322insA NP_001070834.1:n.1110+321_1110+322insA
NM_001136113.1:c.1272+321_1272+322insA NP_001129585.1:n.1272+321_1272+322insA
NM_001136114.1:c.921+321_921+322insA NP_001129586.1:n.921+321_921+322insA
NM_007171.3:c.1338+321_1338+322insA NP_009102.3:n.1338+321_1338+322insA
XM_005272156.1:c.1338+321_1338+322insA XP_005272213.1:n.1338+321_1338+322insA
XM_005272158.1:c.1176+321_1176+322insA XP_005272215.1:n.1176+321_1176+322insA
XM_005272159.1:c.987+321_987+322insA XP_005272216.1:n.987+321_987+322insA
XM_005272162.1:c.141+321_141+322insA XP_005272219.1:n.141+321_141+322insA
XM_006716932.1:c.987+321_987+322insA XP_006716995.1:n.987+321_987+322insA
XM_011518140.1:c.1191+321_1191+322insA XP_011516442.1:n.1191+321_1191+322insA
XM_011518141.1:c.1125+321_1125+322insA XP_011516443.1:n.1125+321_1125+322insA
XM_011518142.1:c.1029+321_1029+322insA XP_011516444.1:n.1029+321_1029+322insA
XM_011518143.1:c.1023+321_1023+322insA XP_011516445.1:n.1023+321_1023+322insA
XM_011518144.1:c.1338+321_1338+322insA XP_011516446.1:n.1338+321_1338+322insA
XM_011518145.1:c.882+321_882+322insA XP_011516447.1:n.882+321_882+322insA
XM_011518146.1:c.1023+321_1023+322insA XP_011516448.1:n.1023+321_1023+322insA
XR_929703.1:n.1514+321_1514+322insA
NM_001353193.1:c.1338+321_1338+322insA NP_001340122.1:n.1338+321_1338+322insA
NM_001353194.1:c.1110+321_1110+322insA NP_001340123.1:n.1110+321_1110+322insA
NM_001353195.1:c.921+321_921+322insA NP_001340124.1:n.921+321_921+322insA
NM_001353196.1:c.1182+321_1182+322insA NP_001340125.1:n.1182+321_1182+322insA
NM_001353197.1:c.1176+321_1176+322insA NP_001340126.1:n.1176+321_1176+322insA
NM_001353198.1:c.1176+321_1176+322insA NP_001340127.1:n.1176+321_1176+322insA
NM_001353199.1:c.987+321_987+322insA NP_001340128.1:n.987+321_987+322insA
NM_001353200.1:c.816+321_816+322insA NP_001340129.1:n.816+321_816+322insA
NR_148391.1:n.1322+321_1322+322insA
NR_148392.1:n.1540+321_1540+322insA
NR_148393.1:n.1322+321_1322+322insA
NR_148394.1:n.1215+321_1215+322insA
NR_148395.1:n.1474+321_1474+322insA
NR_148396.1:n.1108+321_1108+322insA
NR_148397.1:n.1372+321_1372+322insA
NR_148398.1:n.1327+321_1327+322insA
NR_148399.1:n.1714+321_1714+322insA
NR_148400.1:n.1313+321_1313+322insA
XM_005272162.3:c.141+321_141+322insA XP_005272219.1:n.141+321_141+322insA
XM_006716932.2:c.987+321_987+322insA XP_006716995.1:n.987+321_987+322insA
XM_011518140.2:c.1191+321_1191+322insA XP_011516442.1:n.1191+321_1191+322insA
XM_011518141.2:c.1125+321_1125+322insA XP_011516443.1:n.1125+321_1125+322insA
XM_011518142.2:c.1029+321_1029+322insA XP_011516444.1:n.1029+321_1029+322insA
XM_011518143.2:c.1023+321_1023+322insA XP_011516445.1:n.1023+321_1023+322insA
XM_011518145.2:c.882+321_882+322insA XP_011516447.1:n.882+321_882+322insA
XM_017014205.2:c.141+321_141+322insA XP_016869694.1:n.141+321_141+322insA
XM_024447380.1:c.141+321_141+322insA XP_024303148.1:n.141+321_141+322insA
XM_024447381.1:c.447+321_447+322insA XP_024303149.1:n.447+321_447+322insA
XM_024447382.1:c.141+321_141+322insA XP_024303150.1:n.141+321_141+322insA
XR_001746160.2:n.1442+321_1442+322insA
XR_001746162.2:n.1508+321_1508+322insA
XR_001746164.1:n.1225+321_1225+322insA
XR_001746166.2:n.1659+321_1659+322insA
NM_001077365.2:c.1272+321_1272+322insA MANE Select NP_001070833.1:n.1272+321_1272+322insA
NM_001077366.2:c.1110+321_1110+322insA NP_001070834.1:n.1110+321_1110+322insA
NM_001136113.2:c.1272+321_1272+322insA NP_001129585.1:n.1272+321_1272+322insA
NM_001136114.2:c.921+321_921+322insA NP_001129586.1:n.921+321_921+322insA
NM_001353193.2:c.1338+321_1338+322insA NP_001340122.2:n.1338+321_1338+322insA
NM_001353194.2:c.1110+321_1110+322insA NP_001340123.1:n.1110+321_1110+322insA
NM_001353195.2:c.921+321_921+322insA NP_001340124.1:n.921+321_921+322insA
NM_001353196.2:c.1182+321_1182+322insA NP_001340125.1:n.1182+321_1182+322insA
NM_001353197.2:c.1176+321_1176+322insA NP_001340126.2:n.1176+321_1176+322insA
NM_001353198.2:c.1176+321_1176+322insA NP_001340127.2:n.1176+321_1176+322insA
NM_001353199.2:c.987+321_987+322insA NP_001340128.2:n.987+321_987+322insA
NM_001353200.2:c.816+321_816+322insA NP_001340129.1:n.816+321_816+322insA
NM_001374689.1:c.1260+321_1260+322insA NP_001361618.1:n.1260+321_1260+322insA
NM_001374690.1:c.1272+321_1272+322insA NP_001361619.1:n.1272+321_1272+322insA
NM_001374691.1:c.921+321_921+322insA NP_001361620.1:n.921+321_921+322insA
NM_001374692.1:c.921+321_921+322insA NP_001361621.1:n.921+321_921+322insA
NM_001374693.1:c.921+321_921+322insA NP_001361622.1:n.921+321_921+322insA
NM_001374695.1:c.882+321_882+322insA NP_001361624.1:n.882+321_882+322insA
NM_007171.4:c.1338+321_1338+322insA NP_009102.4:n.1338+321_1338+322insA
NR_148391.2:n.1306+321_1306+322insA
NR_148392.2:n.1524+321_1524+322insA
NR_148393.2:n.1306+321_1306+322insA
NR_148394.2:n.1199+321_1199+322insA
NR_148395.2:n.1458+321_1458+322insA
NR_148396.2:n.1092+321_1092+322insA
NR_148397.2:n.1356+321_1356+322insA
NR_148398.2:n.1311+321_1311+322insA
NR_148399.2:n.1698+321_1698+322insA
NR_148400.2:n.1297+321_1297+322insA
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