Canonical Allele Identifier: CA1881757355
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515741_131515753delinsACTTCCTCACACG , CM000671.2:g.131515741_131515753delinsACTTCCTCACACG GRCh38
NC_000009.11:g.134391128_134391140delinsACTTCCTCACACG , CM000671.1:g.134391128_134391140delinsACTTCCTCACACG GRCh37
NC_000009.10:g.133380949_133380961delinsACTTCCTCACACG NCBI36
NG_008896.1:g.17840_17852delinsACTTCCTCACACG
NG_008896.2:g.17840_17852delinsACTTCCTCACACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+219_1110+231delinsACTTCCTCACACG ENSP00000343034.7:n.1110+219_1110+231delinsACTTCCTCACACG
ENST00000404875.7:n.1812+219_1812+231delinsACTTCCTCACACG
ENST00000423007.6:c.1329+219_1329+231delinsACTTCCTCACACG ENSP00000404119.2:n.1329+219_1329+231delinsACTTCCTCACACG
ENST00000677295.2:c.*1616+219_*1616+231delinsACTTCCTCACACG ENSP00000504346.2:n.*1616+219_*1616+231delinsACTTCCTCACACG
ENST00000678264.2:c.*1455+219_*1455+231delinsACTTCCTCACACG ENSP00000503157.2:n.*1455+219_*1455+231delinsACTTCCTCACACG
ENST00000682070.1:n.1737+219_1737+231delinsACTTCCTCACACG
ENST00000682539.1:c.97+219_97+231delinsACTTCCTCACACG
ENST00000682813.1:n.1537+219_1537+231delinsACTTCCTCACACG
ENST00000683392.1:n.4019+219_4019+231delinsACTTCCTCACACG
ENST00000683712.1:n.1677+219_1677+231delinsACTTCCTCACACG
ENST00000683900.1:n.3172+219_3172+231delinsACTTCCTCACACG
ENST00000684062.1:n.1938+219_1938+231delinsACTTCCTCACACG
ENST00000684579.1:n.3118+219_3118+231delinsACTTCCTCACACG
ENST00000341012.12:c.1110+219_1110+231delinsACTTCCTCACACG ENSP00000343034.7:n.1110+219_1110+231delinsACTTCCTCACACG
ENST00000372220.5:c.141+219_141+231delinsACTTCCTCACACG ENSP00000361294.5:n.141+219_141+231delinsACTTCCTCACACG
ENST00000372228.9:c.1338+219_1338+231delinsACTTCCTCACACG ENSP00000361302.3:n.1338+219_1338+231delinsACTTCCTCACACG
ENST00000402686.8:c.1272+219_1272+231delinsACTTCCTCACACG MANE Select ENSP00000385797.4:n.1272+219_1272+231delinsACTTCCTCACACG
ENST00000676640.1:c.1272+219_1272+231delinsACTTCCTCACACG ENSP00000503281.1:n.1272+219_1272+231delinsACTTCCTCACACG
ENST00000676803.1:c.447+219_447+231delinsACTTCCTCACACG ENSP00000503093.1:n.447+219_447+231delinsACTTCCTCACACG
ENST00000676835.1:c.*487+219_*487+231delinsACTTCCTCACACG ENSP00000502911.1:n.*487+219_*487+231delinsACTTCCTCACACG
ENST00000677029.1:c.816+219_816+231delinsACTTCCTCACACG ENSP00000502936.1:n.816+219_816+231delinsACTTCCTCACACG
ENST00000677099.1:c.*982+219_*982+231delinsACTTCCTCACACG ENSP00000504553.1:n.*982+219_*982+231delinsACTTCCTCACACG
ENST00000677216.1:c.921+219_921+231delinsACTTCCTCACACG ENSP00000503772.1:n.921+219_921+231delinsACTTCCTCACACG
ENST00000677295.1:c.*649+219_*649+231delinsACTTCCTCACACG ENSP00000504346.1:n.*649+219_*649+231delinsACTTCCTCACACG
ENST00000677444.1:c.1078+219_1078+231delinsACTTCCTCACACG
ENST00000677586.1:n.753+219_753+231delinsACTTCCTCACACG
ENST00000677626.1:c.921+219_921+231delinsACTTCCTCACACG ENSP00000503552.1:n.921+219_921+231delinsACTTCCTCACACG
ENST00000677677.1:n.1232+219_1232+231delinsACTTCCTCACACG
ENST00000677853.1:c.*280+219_*280+231delinsACTTCCTCACACG ENSP00000503488.1:n.*280+219_*280+231delinsACTTCCTCACACG
ENST00000677944.1:c.534+219_534+231delinsACTTCCTCACACG
ENST00000678264.1:c.*649+219_*649+231delinsACTTCCTCACACG ENSP00000503157.1:n.*649+219_*649+231delinsACTTCCTCACACG
ENST00000678303.1:c.1182+219_1182+231delinsACTTCCTCACACG ENSP00000503696.1:n.1182+219_1182+231delinsACTTCCTCACACG
ENST00000678366.1:c.*1521+219_*1521+231delinsACTTCCTCACACG ENSP00000504353.1:n.*1521+219_*1521+231delinsACTTCCTCACACG
ENST00000678546.1:c.*1217+219_*1217+231delinsACTTCCTCACACG ENSP00000503062.1:n.*1217+219_*1217+231delinsACTTCCTCACACG
ENST00000678548.1:c.*1344+219_*1344+231delinsACTTCCTCACACG ENSP00000503934.1:n.*1344+219_*1344+231delinsACTTCCTCACACG
ENST00000678626.1:n.969+219_969+231delinsACTTCCTCACACG
ENST00000678733.1:c.353+219_353+231delinsACTTCCTCACACG
ENST00000678739.1:c.*1598+219_*1598+231delinsACTTCCTCACACG ENSP00000503806.1:n.*1598+219_*1598+231delinsACTTCCTCACACG
ENST00000678795.1:n.359+219_359+231delinsACTTCCTCACACG
ENST00000678833.1:c.*719+219_*719+231delinsACTTCCTCACACG ENSP00000503893.1:n.*719+219_*719+231delinsACTTCCTCACACG
ENST00000678942.1:c.452+219_452+231delinsACTTCCTCACACG ENSP00000504690.1:n.452+219_452+231delinsACTTCCTCACACG
ENST00000679023.1:c.1110+219_1110+231delinsACTTCCTCACACG ENSP00000503718.1:n.1110+219_1110+231delinsACTTCCTCACACG
ENST00000679076.1:c.891+219_891+231delinsACTTCCTCACACG
ENST00000679111.1:c.1272+219_1272+231delinsACTTCCTCACACG ENSP00000504257.1:n.1272+219_1272+231delinsACTTCCTCACACG
ENST00000679189.1:c.921+219_921+231delinsACTTCCTCACACG ENSP00000503356.1:n.921+219_921+231delinsACTTCCTCACACG
ENST00000341012.11:c.1110+219_1110+231delinsACTTCCTCACACG ENSP00000343034.7:n.1110+219_1110+231delinsACTTCCTCACACG
ENST00000372228.7:c.1338+219_1338+231delinsACTTCCTCACACG ENSP00000361302.3:n.1338+219_1338+231delinsACTTCCTCACACG
ENST00000402686.7:c.1272+219_1272+231delinsACTTCCTCACACG ENSP00000385797.3:n.1272+219_1272+231delinsACTTCCTCACACG
ENST00000404875.6:c.921+219_921+231delinsACTTCCTCACACG ENSP00000384531.2:n.921+219_921+231delinsACTTCCTCACACG
ENST00000423007.5:c.1272+219_1272+231delinsACTTCCTCACACG ENSP00000404119.1:n.1272+219_1272+231delinsACTTCCTCACACG
ENST00000485278.5:n.1827+219_1827+231delinsACTTCCTCACACG
NM_001077365.1:c.1272+219_1272+231delinsACTTCCTCACACG NP_001070833.1:n.1272+219_1272+231delinsACTTCCTCACACG
NM_001077366.1:c.1110+219_1110+231delinsACTTCCTCACACG NP_001070834.1:n.1110+219_1110+231delinsACTTCCTCACACG
NM_001136113.1:c.1272+219_1272+231delinsACTTCCTCACACG NP_001129585.1:n.1272+219_1272+231delinsACTTCCTCACACG
NM_001136114.1:c.921+219_921+231delinsACTTCCTCACACG NP_001129586.1:n.921+219_921+231delinsACTTCCTCACACG
NM_007171.3:c.1338+219_1338+231delinsACTTCCTCACACG NP_009102.3:n.1338+219_1338+231delinsACTTCCTCACACG
XM_005272156.1:c.1338+219_1338+231delinsACTTCCTCACACG XP_005272213.1:n.1338+219_1338+231delinsACTTCCTCACACG
XM_005272158.1:c.1176+219_1176+231delinsACTTCCTCACACG XP_005272215.1:n.1176+219_1176+231delinsACTTCCTCACACG
XM_005272159.1:c.987+219_987+231delinsACTTCCTCACACG XP_005272216.1:n.987+219_987+231delinsACTTCCTCACACG
XM_005272162.1:c.141+219_141+231delinsACTTCCTCACACG XP_005272219.1:n.141+219_141+231delinsACTTCCTCACACG
XM_006716932.1:c.987+219_987+231delinsACTTCCTCACACG XP_006716995.1:n.987+219_987+231delinsACTTCCTCACACG
XM_011518140.1:c.1191+219_1191+231delinsACTTCCTCACACG XP_011516442.1:n.1191+219_1191+231delinsACTTCCTCACACG
XM_011518141.1:c.1125+219_1125+231delinsACTTCCTCACACG XP_011516443.1:n.1125+219_1125+231delinsACTTCCTCACACG
XM_011518142.1:c.1029+219_1029+231delinsACTTCCTCACACG XP_011516444.1:n.1029+219_1029+231delinsACTTCCTCACACG
XM_011518143.1:c.1023+219_1023+231delinsACTTCCTCACACG XP_011516445.1:n.1023+219_1023+231delinsACTTCCTCACACG
XM_011518144.1:c.1338+219_1338+231delinsACTTCCTCACACG XP_011516446.1:n.1338+219_1338+231delinsACTTCCTCACACG
XM_011518145.1:c.882+219_882+231delinsACTTCCTCACACG XP_011516447.1:n.882+219_882+231delinsACTTCCTCACACG
XM_011518146.1:c.1023+219_1023+231delinsACTTCCTCACACG XP_011516448.1:n.1023+219_1023+231delinsACTTCCTCACACG
XR_929703.1:n.1514+219_1514+231delinsACTTCCTCACACG
NM_001353193.1:c.1338+219_1338+231delinsACTTCCTCACACG NP_001340122.1:n.1338+219_1338+231delinsACTTCCTCACACG
NM_001353194.1:c.1110+219_1110+231delinsACTTCCTCACACG NP_001340123.1:n.1110+219_1110+231delinsACTTCCTCACACG
NM_001353195.1:c.921+219_921+231delinsACTTCCTCACACG NP_001340124.1:n.921+219_921+231delinsACTTCCTCACACG
NM_001353196.1:c.1182+219_1182+231delinsACTTCCTCACACG NP_001340125.1:n.1182+219_1182+231delinsACTTCCTCACACG
NM_001353197.1:c.1176+219_1176+231delinsACTTCCTCACACG NP_001340126.1:n.1176+219_1176+231delinsACTTCCTCACACG
NM_001353198.1:c.1176+219_1176+231delinsACTTCCTCACACG NP_001340127.1:n.1176+219_1176+231delinsACTTCCTCACACG
NM_001353199.1:c.987+219_987+231delinsACTTCCTCACACG NP_001340128.1:n.987+219_987+231delinsACTTCCTCACACG
NM_001353200.1:c.816+219_816+231delinsACTTCCTCACACG NP_001340129.1:n.816+219_816+231delinsACTTCCTCACACG
NR_148391.1:n.1322+219_1322+231delinsACTTCCTCACACG
NR_148392.1:n.1540+219_1540+231delinsACTTCCTCACACG
NR_148393.1:n.1322+219_1322+231delinsACTTCCTCACACG
NR_148394.1:n.1215+219_1215+231delinsACTTCCTCACACG
NR_148395.1:n.1474+219_1474+231delinsACTTCCTCACACG
NR_148396.1:n.1108+219_1108+231delinsACTTCCTCACACG
NR_148397.1:n.1372+219_1372+231delinsACTTCCTCACACG
NR_148398.1:n.1327+219_1327+231delinsACTTCCTCACACG
NR_148399.1:n.1714+219_1714+231delinsACTTCCTCACACG
NR_148400.1:n.1313+219_1313+231delinsACTTCCTCACACG
XM_005272162.3:c.141+219_141+231delinsACTTCCTCACACG XP_005272219.1:n.141+219_141+231delinsACTTCCTCACACG
XM_006716932.2:c.987+219_987+231delinsACTTCCTCACACG XP_006716995.1:n.987+219_987+231delinsACTTCCTCACACG
XM_011518140.2:c.1191+219_1191+231delinsACTTCCTCACACG XP_011516442.1:n.1191+219_1191+231delinsACTTCCTCACACG
XM_011518141.2:c.1125+219_1125+231delinsACTTCCTCACACG XP_011516443.1:n.1125+219_1125+231delinsACTTCCTCACACG
XM_011518142.2:c.1029+219_1029+231delinsACTTCCTCACACG XP_011516444.1:n.1029+219_1029+231delinsACTTCCTCACACG
XM_011518143.2:c.1023+219_1023+231delinsACTTCCTCACACG XP_011516445.1:n.1023+219_1023+231delinsACTTCCTCACACG
XM_011518145.2:c.882+219_882+231delinsACTTCCTCACACG XP_011516447.1:n.882+219_882+231delinsACTTCCTCACACG
XM_017014205.2:c.141+219_141+231delinsACTTCCTCACACG XP_016869694.1:n.141+219_141+231delinsACTTCCTCACACG
XM_024447380.1:c.141+219_141+231delinsACTTCCTCACACG XP_024303148.1:n.141+219_141+231delinsACTTCCTCACACG
XM_024447381.1:c.447+219_447+231delinsACTTCCTCACACG XP_024303149.1:n.447+219_447+231delinsACTTCCTCACACG
XM_024447382.1:c.141+219_141+231delinsACTTCCTCACACG XP_024303150.1:n.141+219_141+231delinsACTTCCTCACACG
XR_001746160.2:n.1442+219_1442+231delinsACTTCCTCACACG
XR_001746162.2:n.1508+219_1508+231delinsACTTCCTCACACG
XR_001746164.1:n.1225+219_1225+231delinsACTTCCTCACACG
XR_001746166.2:n.1659+219_1659+231delinsACTTCCTCACACG
NM_001077365.2:c.1272+219_1272+231delinsACTTCCTCACACG MANE Select NP_001070833.1:n.1272+219_1272+231delinsACTTCCTCACACG
NM_001077366.2:c.1110+219_1110+231delinsACTTCCTCACACG NP_001070834.1:n.1110+219_1110+231delinsACTTCCTCACACG
NM_001136113.2:c.1272+219_1272+231delinsACTTCCTCACACG NP_001129585.1:n.1272+219_1272+231delinsACTTCCTCACACG
NM_001136114.2:c.921+219_921+231delinsACTTCCTCACACG NP_001129586.1:n.921+219_921+231delinsACTTCCTCACACG
NM_001353193.2:c.1338+219_1338+231delinsACTTCCTCACACG NP_001340122.2:n.1338+219_1338+231delinsACTTCCTCACACG
NM_001353194.2:c.1110+219_1110+231delinsACTTCCTCACACG NP_001340123.1:n.1110+219_1110+231delinsACTTCCTCACACG
NM_001353195.2:c.921+219_921+231delinsACTTCCTCACACG NP_001340124.1:n.921+219_921+231delinsACTTCCTCACACG
NM_001353196.2:c.1182+219_1182+231delinsACTTCCTCACACG NP_001340125.1:n.1182+219_1182+231delinsACTTCCTCACACG
NM_001353197.2:c.1176+219_1176+231delinsACTTCCTCACACG NP_001340126.2:n.1176+219_1176+231delinsACTTCCTCACACG
NM_001353198.2:c.1176+219_1176+231delinsACTTCCTCACACG NP_001340127.2:n.1176+219_1176+231delinsACTTCCTCACACG
NM_001353199.2:c.987+219_987+231delinsACTTCCTCACACG NP_001340128.2:n.987+219_987+231delinsACTTCCTCACACG
NM_001353200.2:c.816+219_816+231delinsACTTCCTCACACG NP_001340129.1:n.816+219_816+231delinsACTTCCTCACACG
NM_001374689.1:c.1260+219_1260+231delinsACTTCCTCACACG NP_001361618.1:n.1260+219_1260+231delinsACTTCCTCACACG
NM_001374690.1:c.1272+219_1272+231delinsACTTCCTCACACG NP_001361619.1:n.1272+219_1272+231delinsACTTCCTCACACG
NM_001374691.1:c.921+219_921+231delinsACTTCCTCACACG NP_001361620.1:n.921+219_921+231delinsACTTCCTCACACG
NM_001374692.1:c.921+219_921+231delinsACTTCCTCACACG NP_001361621.1:n.921+219_921+231delinsACTTCCTCACACG
NM_001374693.1:c.921+219_921+231delinsACTTCCTCACACG NP_001361622.1:n.921+219_921+231delinsACTTCCTCACACG
NM_001374695.1:c.882+219_882+231delinsACTTCCTCACACG NP_001361624.1:n.882+219_882+231delinsACTTCCTCACACG
NM_007171.4:c.1338+219_1338+231delinsACTTCCTCACACG NP_009102.4:n.1338+219_1338+231delinsACTTCCTCACACG
NR_148391.2:n.1306+219_1306+231delinsACTTCCTCACACG
NR_148392.2:n.1524+219_1524+231delinsACTTCCTCACACG
NR_148393.2:n.1306+219_1306+231delinsACTTCCTCACACG
NR_148394.2:n.1199+219_1199+231delinsACTTCCTCACACG
NR_148395.2:n.1458+219_1458+231delinsACTTCCTCACACG
NR_148396.2:n.1092+219_1092+231delinsACTTCCTCACACG
NR_148397.2:n.1356+219_1356+231delinsACTTCCTCACACG
NR_148398.2:n.1311+219_1311+231delinsACTTCCTCACACG
NR_148399.2:n.1698+219_1698+231delinsACTTCCTCACACG
NR_148400.2:n.1297+219_1297+231delinsACTTCCTCACACG