Canonical Allele Identifier: CA1881757492
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515774_131515775delinsAG , CM000671.2:g.131515774_131515775delinsAG GRCh38
NC_000009.11:g.134391161_134391162delinsAG , CM000671.1:g.134391161_134391162delinsAG GRCh37
NC_000009.10:g.133380982_133380983delinsAG NCBI36
NG_008896.1:g.17873_17874delinsAG
NG_008896.2:g.17873_17874delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+252_1110+253delinsAG ENSP00000343034.7:n.1110+252_1110+253delinsAG
ENST00000404875.7:n.1812+252_1812+253delinsAG
ENST00000423007.6:c.1329+252_1329+253delinsAG ENSP00000404119.2:n.1329+252_1329+253delinsAG
ENST00000677295.2:c.*1616+252_*1616+253delinsAG ENSP00000504346.2:n.*1616+252_*1616+253delinsAG
ENST00000678264.2:c.*1455+252_*1455+253delinsAG ENSP00000503157.2:n.*1455+252_*1455+253delinsAG
ENST00000682070.1:n.1737+252_1737+253delinsAG
ENST00000682539.1:c.97+252_97+253delinsAG
ENST00000682813.1:n.1537+252_1537+253delinsAG
ENST00000683392.1:n.4019+252_4019+253delinsAG
ENST00000683712.1:n.1677+252_1677+253delinsAG
ENST00000683900.1:n.3172+252_3172+253delinsAG
ENST00000684062.1:n.1938+252_1938+253delinsAG
ENST00000684579.1:n.3118+252_3118+253delinsAG
ENST00000341012.12:c.1110+252_1110+253delinsAG ENSP00000343034.7:n.1110+252_1110+253delinsAG
ENST00000372220.5:c.141+252_141+253delinsAG ENSP00000361294.5:n.141+252_141+253delinsAG
ENST00000372228.9:c.1338+252_1338+253delinsAG ENSP00000361302.3:n.1338+252_1338+253delinsAG
ENST00000402686.8:c.1272+252_1272+253delinsAG MANE Select ENSP00000385797.4:n.1272+252_1272+253delinsAG
ENST00000676640.1:c.1272+252_1272+253delinsAG ENSP00000503281.1:n.1272+252_1272+253delinsAG
ENST00000676803.1:c.447+252_447+253delinsAG ENSP00000503093.1:n.447+252_447+253delinsAG
ENST00000676835.1:c.*487+252_*487+253delinsAG ENSP00000502911.1:n.*487+252_*487+253delinsAG
ENST00000677029.1:c.816+252_816+253delinsAG ENSP00000502936.1:n.816+252_816+253delinsAG
ENST00000677099.1:c.*982+252_*982+253delinsAG ENSP00000504553.1:n.*982+252_*982+253delinsAG
ENST00000677216.1:c.921+252_921+253delinsAG ENSP00000503772.1:n.921+252_921+253delinsAG
ENST00000677295.1:c.*649+252_*649+253delinsAG ENSP00000504346.1:n.*649+252_*649+253delinsAG
ENST00000677444.1:c.1078+252_1078+253delinsAG
ENST00000677586.1:n.753+252_753+253delinsAG
ENST00000677626.1:c.921+252_921+253delinsAG ENSP00000503552.1:n.921+252_921+253delinsAG
ENST00000677677.1:n.1232+252_1232+253delinsAG
ENST00000677853.1:c.*280+252_*280+253delinsAG ENSP00000503488.1:n.*280+252_*280+253delinsAG
ENST00000677944.1:c.534+252_534+253delinsAG
ENST00000678264.1:c.*649+252_*649+253delinsAG ENSP00000503157.1:n.*649+252_*649+253delinsAG
ENST00000678303.1:c.1182+252_1182+253delinsAG ENSP00000503696.1:n.1182+252_1182+253delinsAG
ENST00000678366.1:c.*1521+252_*1521+253delinsAG ENSP00000504353.1:n.*1521+252_*1521+253delinsAG
ENST00000678546.1:c.*1217+252_*1217+253delinsAG ENSP00000503062.1:n.*1217+252_*1217+253delinsAG
ENST00000678548.1:c.*1344+252_*1344+253delinsAG ENSP00000503934.1:n.*1344+252_*1344+253delinsAG
ENST00000678626.1:n.969+252_969+253delinsAG
ENST00000678733.1:c.353+252_353+253delinsAG
ENST00000678739.1:c.*1598+252_*1598+253delinsAG ENSP00000503806.1:n.*1598+252_*1598+253delinsAG
ENST00000678795.1:n.359+252_359+253delinsAG
ENST00000678833.1:c.*719+252_*719+253delinsAG ENSP00000503893.1:n.*719+252_*719+253delinsAG
ENST00000678942.1:c.452+252_452+253delinsAG ENSP00000504690.1:n.452+252_452+253delinsAG
ENST00000679023.1:c.1110+252_1110+253delinsAG ENSP00000503718.1:n.1110+252_1110+253delinsAG
ENST00000679076.1:c.891+252_891+253delinsAG
ENST00000679111.1:c.1272+252_1272+253delinsAG ENSP00000504257.1:n.1272+252_1272+253delinsAG
ENST00000679189.1:c.921+252_921+253delinsAG ENSP00000503356.1:n.921+252_921+253delinsAG
ENST00000341012.11:c.1110+252_1110+253delinsAG ENSP00000343034.7:n.1110+252_1110+253delinsAG
ENST00000372228.7:c.1338+252_1338+253delinsAG ENSP00000361302.3:n.1338+252_1338+253delinsAG
ENST00000402686.7:c.1272+252_1272+253delinsAG ENSP00000385797.3:n.1272+252_1272+253delinsAG
ENST00000404875.6:c.921+252_921+253delinsAG ENSP00000384531.2:n.921+252_921+253delinsAG
ENST00000423007.5:c.1272+252_1272+253delinsAG ENSP00000404119.1:n.1272+252_1272+253delinsAG
ENST00000485278.5:n.1827+252_1827+253delinsAG
NM_001077365.1:c.1272+252_1272+253delinsAG NP_001070833.1:n.1272+252_1272+253delinsAG
NM_001077366.1:c.1110+252_1110+253delinsAG NP_001070834.1:n.1110+252_1110+253delinsAG
NM_001136113.1:c.1272+252_1272+253delinsAG NP_001129585.1:n.1272+252_1272+253delinsAG
NM_001136114.1:c.921+252_921+253delinsAG NP_001129586.1:n.921+252_921+253delinsAG
NM_007171.3:c.1338+252_1338+253delinsAG NP_009102.3:n.1338+252_1338+253delinsAG
XM_005272156.1:c.1338+252_1338+253delinsAG XP_005272213.1:n.1338+252_1338+253delinsAG
XM_005272158.1:c.1176+252_1176+253delinsAG XP_005272215.1:n.1176+252_1176+253delinsAG
XM_005272159.1:c.987+252_987+253delinsAG XP_005272216.1:n.987+252_987+253delinsAG
XM_005272162.1:c.141+252_141+253delinsAG XP_005272219.1:n.141+252_141+253delinsAG
XM_006716932.1:c.987+252_987+253delinsAG XP_006716995.1:n.987+252_987+253delinsAG
XM_011518140.1:c.1191+252_1191+253delinsAG XP_011516442.1:n.1191+252_1191+253delinsAG
XM_011518141.1:c.1125+252_1125+253delinsAG XP_011516443.1:n.1125+252_1125+253delinsAG
XM_011518142.1:c.1029+252_1029+253delinsAG XP_011516444.1:n.1029+252_1029+253delinsAG
XM_011518143.1:c.1023+252_1023+253delinsAG XP_011516445.1:n.1023+252_1023+253delinsAG
XM_011518144.1:c.1338+252_1338+253delinsAG XP_011516446.1:n.1338+252_1338+253delinsAG
XM_011518145.1:c.882+252_882+253delinsAG XP_011516447.1:n.882+252_882+253delinsAG
XM_011518146.1:c.1023+252_1023+253delinsAG XP_011516448.1:n.1023+252_1023+253delinsAG
XR_929703.1:n.1514+252_1514+253delinsAG
NM_001353193.1:c.1338+252_1338+253delinsAG NP_001340122.1:n.1338+252_1338+253delinsAG
NM_001353194.1:c.1110+252_1110+253delinsAG NP_001340123.1:n.1110+252_1110+253delinsAG
NM_001353195.1:c.921+252_921+253delinsAG NP_001340124.1:n.921+252_921+253delinsAG
NM_001353196.1:c.1182+252_1182+253delinsAG NP_001340125.1:n.1182+252_1182+253delinsAG
NM_001353197.1:c.1176+252_1176+253delinsAG NP_001340126.1:n.1176+252_1176+253delinsAG
NM_001353198.1:c.1176+252_1176+253delinsAG NP_001340127.1:n.1176+252_1176+253delinsAG
NM_001353199.1:c.987+252_987+253delinsAG NP_001340128.1:n.987+252_987+253delinsAG
NM_001353200.1:c.816+252_816+253delinsAG NP_001340129.1:n.816+252_816+253delinsAG
NR_148391.1:n.1322+252_1322+253delinsAG
NR_148392.1:n.1540+252_1540+253delinsAG
NR_148393.1:n.1322+252_1322+253delinsAG
NR_148394.1:n.1215+252_1215+253delinsAG
NR_148395.1:n.1474+252_1474+253delinsAG
NR_148396.1:n.1108+252_1108+253delinsAG
NR_148397.1:n.1372+252_1372+253delinsAG
NR_148398.1:n.1327+252_1327+253delinsAG
NR_148399.1:n.1714+252_1714+253delinsAG
NR_148400.1:n.1313+252_1313+253delinsAG
XM_005272162.3:c.141+252_141+253delinsAG XP_005272219.1:n.141+252_141+253delinsAG
XM_006716932.2:c.987+252_987+253delinsAG XP_006716995.1:n.987+252_987+253delinsAG
XM_011518140.2:c.1191+252_1191+253delinsAG XP_011516442.1:n.1191+252_1191+253delinsAG
XM_011518141.2:c.1125+252_1125+253delinsAG XP_011516443.1:n.1125+252_1125+253delinsAG
XM_011518142.2:c.1029+252_1029+253delinsAG XP_011516444.1:n.1029+252_1029+253delinsAG
XM_011518143.2:c.1023+252_1023+253delinsAG XP_011516445.1:n.1023+252_1023+253delinsAG
XM_011518145.2:c.882+252_882+253delinsAG XP_011516447.1:n.882+252_882+253delinsAG
XM_017014205.2:c.141+252_141+253delinsAG XP_016869694.1:n.141+252_141+253delinsAG
XM_024447380.1:c.141+252_141+253delinsAG XP_024303148.1:n.141+252_141+253delinsAG
XM_024447381.1:c.447+252_447+253delinsAG XP_024303149.1:n.447+252_447+253delinsAG
XM_024447382.1:c.141+252_141+253delinsAG XP_024303150.1:n.141+252_141+253delinsAG
XR_001746160.2:n.1442+252_1442+253delinsAG
XR_001746162.2:n.1508+252_1508+253delinsAG
XR_001746164.1:n.1225+252_1225+253delinsAG
XR_001746166.2:n.1659+252_1659+253delinsAG
NM_001077365.2:c.1272+252_1272+253delinsAG MANE Select NP_001070833.1:n.1272+252_1272+253delinsAG
NM_001077366.2:c.1110+252_1110+253delinsAG NP_001070834.1:n.1110+252_1110+253delinsAG
NM_001136113.2:c.1272+252_1272+253delinsAG NP_001129585.1:n.1272+252_1272+253delinsAG
NM_001136114.2:c.921+252_921+253delinsAG NP_001129586.1:n.921+252_921+253delinsAG
NM_001353193.2:c.1338+252_1338+253delinsAG NP_001340122.2:n.1338+252_1338+253delinsAG
NM_001353194.2:c.1110+252_1110+253delinsAG NP_001340123.1:n.1110+252_1110+253delinsAG
NM_001353195.2:c.921+252_921+253delinsAG NP_001340124.1:n.921+252_921+253delinsAG
NM_001353196.2:c.1182+252_1182+253delinsAG NP_001340125.1:n.1182+252_1182+253delinsAG
NM_001353197.2:c.1176+252_1176+253delinsAG NP_001340126.2:n.1176+252_1176+253delinsAG
NM_001353198.2:c.1176+252_1176+253delinsAG NP_001340127.2:n.1176+252_1176+253delinsAG
NM_001353199.2:c.987+252_987+253delinsAG NP_001340128.2:n.987+252_987+253delinsAG
NM_001353200.2:c.816+252_816+253delinsAG NP_001340129.1:n.816+252_816+253delinsAG
NM_001374689.1:c.1260+252_1260+253delinsAG NP_001361618.1:n.1260+252_1260+253delinsAG
NM_001374690.1:c.1272+252_1272+253delinsAG NP_001361619.1:n.1272+252_1272+253delinsAG
NM_001374691.1:c.921+252_921+253delinsAG NP_001361620.1:n.921+252_921+253delinsAG
NM_001374692.1:c.921+252_921+253delinsAG NP_001361621.1:n.921+252_921+253delinsAG
NM_001374693.1:c.921+252_921+253delinsAG NP_001361622.1:n.921+252_921+253delinsAG
NM_001374695.1:c.882+252_882+253delinsAG NP_001361624.1:n.882+252_882+253delinsAG
NM_007171.4:c.1338+252_1338+253delinsAG NP_009102.4:n.1338+252_1338+253delinsAG
NR_148391.2:n.1306+252_1306+253delinsAG
NR_148392.2:n.1524+252_1524+253delinsAG
NR_148393.2:n.1306+252_1306+253delinsAG
NR_148394.2:n.1199+252_1199+253delinsAG
NR_148395.2:n.1458+252_1458+253delinsAG
NR_148396.2:n.1092+252_1092+253delinsAG
NR_148397.2:n.1356+252_1356+253delinsAG
NR_148398.2:n.1311+252_1311+253delinsAG
NR_148399.2:n.1698+252_1698+253delinsAG
NR_148400.2:n.1297+252_1297+253delinsAG