Canonical Allele Identifier: CA1129597946

Gene: POMT1

Linked Data

• dbSNP Id: rs1948296276
• gnomAD v3: 9-131515807-C-CGGAGCACTTCCTCTAACAT
• gnomAD v4: 9-131515807-C-CGGAGCACTTCCTCTAACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515825_131515826insTGGAGCACTTCCTCTAACA , CM000671.2:g.131515825_131515826insTGGAGCACTTCCTCTAACA	GRCh38
NC_000009.11:g.134391212_134391213insTGGAGCACTTCCTCTAACA , CM000671.1:g.134391212_134391213insTGGAGCACTTCCTCTAACA	GRCh37
NC_000009.10:g.133381033_133381034insTGGAGCACTTCCTCTAACA	NCBI36
NG_008896.1:g.17924_17925insTGGAGCACTTCCTCTAACA
NG_008896.2:g.17924_17925insTGGAGCACTTCCTCTAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+303_1110+304insTGGAGCACTTCCTCTAACA	ENSP00000343034.7:n.1110+303_1110+304insTGGAGCACTTCCTCTAACA
ENST00000404875.7:n.1812+303_1812+304insTGGAGCACTTCCTCTAACA
ENST00000423007.6:c.1329+303_1329+304insTGGAGCACTTCCTCTAACA	ENSP00000404119.2:n.1329+303_1329+304insTGGAGCACTTCCTCTAACA
ENST00000677295.2:c.*1616+303_*1616+304insTGGAGCACTTCCTCTAACA	ENSP00000504346.2:n.*1616+303_*1616+304insTGGAGCACTTCCTCTAACA...
ENST00000678264.2:c.*1455+303_*1455+304insTGGAGCACTTCCTCTAACA	ENSP00000503157.2:n.*1455+303_*1455+304insTGGAGCACTTCCTCTAACA...
ENST00000682070.1:n.1737+303_1737+304insTGGAGCACTTCCTCTAACA
ENST00000682539.1:c.97+303_97+304insTGGAGCACTTCCTCTAACA
ENST00000682813.1:n.1537+303_1537+304insTGGAGCACTTCCTCTAACA
ENST00000683392.1:n.4019+303_4019+304insTGGAGCACTTCCTCTAACA
ENST00000683712.1:n.1677+303_1677+304insTGGAGCACTTCCTCTAACA
ENST00000683900.1:n.3172+303_3172+304insTGGAGCACTTCCTCTAACA
ENST00000684062.1:n.1938+303_1938+304insTGGAGCACTTCCTCTAACA
ENST00000684579.1:n.3118+303_3118+304insTGGAGCACTTCCTCTAACA
ENST00000341012.12:c.1110+303_1110+304insTGGAGCACTTCCTCTAACA	ENSP00000343034.7:n.1110+303_1110+304insTGGAGCACTTCCTCTAACA
ENST00000372220.5:c.141+303_141+304insTGGAGCACTTCCTCTAACA	ENSP00000361294.5:n.141+303_141+304insTGGAGCACTTCCTCTAACA
ENST00000372228.9:c.1338+303_1338+304insTGGAGCACTTCCTCTAACA	ENSP00000361302.3:n.1338+303_1338+304insTGGAGCACTTCCTCTAACA
ENST00000402686.8:c.1272+303_1272+304insTGGAGCACTTCCTCTAACA MANE Select	ENSP00000385797.4:n.1272+303_1272+304insTGGAGCACTTCCTCTAACA
ENST00000676640.1:c.1272+303_1272+304insTGGAGCACTTCCTCTAACA	ENSP00000503281.1:n.1272+303_1272+304insTGGAGCACTTCCTCTAACA
ENST00000676803.1:c.447+303_447+304insTGGAGCACTTCCTCTAACA	ENSP00000503093.1:n.447+303_447+304insTGGAGCACTTCCTCTAACA
ENST00000676835.1:c.*487+303_*487+304insTGGAGCACTTCCTCTAACA	ENSP00000502911.1:n.*487+303_*487+304insTGGAGCACTTCCTCTAACA
ENST00000677029.1:c.816+303_816+304insTGGAGCACTTCCTCTAACA	ENSP00000502936.1:n.816+303_816+304insTGGAGCACTTCCTCTAACA
ENST00000677099.1:c.*982+303_*982+304insTGGAGCACTTCCTCTAACA	ENSP00000504553.1:n.*982+303_*982+304insTGGAGCACTTCCTCTAACA
ENST00000677216.1:c.921+303_921+304insTGGAGCACTTCCTCTAACA	ENSP00000503772.1:n.921+303_921+304insTGGAGCACTTCCTCTAACA
ENST00000677295.1:c.*649+303_*649+304insTGGAGCACTTCCTCTAACA	ENSP00000504346.1:n.*649+303_*649+304insTGGAGCACTTCCTCTAACA
ENST00000677444.1:c.1078+303_1078+304insTGGAGCACTTCCTCTAACA
ENST00000677586.1:n.753+303_753+304insTGGAGCACTTCCTCTAACA
ENST00000677626.1:c.921+303_921+304insTGGAGCACTTCCTCTAACA	ENSP00000503552.1:n.921+303_921+304insTGGAGCACTTCCTCTAACA
ENST00000677677.1:n.1232+303_1232+304insTGGAGCACTTCCTCTAACA
ENST00000677853.1:c.*280+303_*280+304insTGGAGCACTTCCTCTAACA	ENSP00000503488.1:n.*280+303_*280+304insTGGAGCACTTCCTCTAACA
ENST00000677944.1:c.534+303_534+304insTGGAGCACTTCCTCTAACA
ENST00000678264.1:c.*649+303_*649+304insTGGAGCACTTCCTCTAACA	ENSP00000503157.1:n.*649+303_*649+304insTGGAGCACTTCCTCTAACA
ENST00000678303.1:c.1182+303_1182+304insTGGAGCACTTCCTCTAACA	ENSP00000503696.1:n.1182+303_1182+304insTGGAGCACTTCCTCTAACA
ENST00000678366.1:c.*1521+303_*1521+304insTGGAGCACTTCCTCTAACA	ENSP00000504353.1:n.*1521+303_*1521+304insTGGAGCACTTCCTCTAACA...
ENST00000678546.1:c.*1217+303_*1217+304insTGGAGCACTTCCTCTAACA	ENSP00000503062.1:n.*1217+303_*1217+304insTGGAGCACTTCCTCTAACA...
ENST00000678548.1:c.*1344+303_*1344+304insTGGAGCACTTCCTCTAACA	ENSP00000503934.1:n.*1344+303_*1344+304insTGGAGCACTTCCTCTAACA...
ENST00000678626.1:n.969+303_969+304insTGGAGCACTTCCTCTAACA
ENST00000678733.1:c.353+303_353+304insTGGAGCACTTCCTCTAACA
ENST00000678739.1:c.*1598+303_*1598+304insTGGAGCACTTCCTCTAACA	ENSP00000503806.1:n.*1598+303_*1598+304insTGGAGCACTTCCTCTAACA...
ENST00000678795.1:n.359+303_359+304insTGGAGCACTTCCTCTAACA
ENST00000678833.1:c.*719+303_*719+304insTGGAGCACTTCCTCTAACA	ENSP00000503893.1:n.*719+303_*719+304insTGGAGCACTTCCTCTAACA
ENST00000678942.1:c.452+303_452+304insTGGAGCACTTCCTCTAACA	ENSP00000504690.1:n.452+303_452+304insTGGAGCACTTCCTCTAACA
ENST00000679023.1:c.1110+303_1110+304insTGGAGCACTTCCTCTAACA	ENSP00000503718.1:n.1110+303_1110+304insTGGAGCACTTCCTCTAACA
ENST00000679076.1:c.891+303_891+304insTGGAGCACTTCCTCTAACA
ENST00000679111.1:c.1272+303_1272+304insTGGAGCACTTCCTCTAACA	ENSP00000504257.1:n.1272+303_1272+304insTGGAGCACTTCCTCTAACA
ENST00000679189.1:c.921+303_921+304insTGGAGCACTTCCTCTAACA	ENSP00000503356.1:n.921+303_921+304insTGGAGCACTTCCTCTAACA
ENST00000341012.11:c.1110+303_1110+304insTGGAGCACTTCCTCTAACA	ENSP00000343034.7:n.1110+303_1110+304insTGGAGCACTTCCTCTAACA
ENST00000372228.7:c.1338+303_1338+304insTGGAGCACTTCCTCTAACA	ENSP00000361302.3:n.1338+303_1338+304insTGGAGCACTTCCTCTAACA
ENST00000402686.7:c.1272+303_1272+304insTGGAGCACTTCCTCTAACA	ENSP00000385797.3:n.1272+303_1272+304insTGGAGCACTTCCTCTAACA
ENST00000404875.6:c.921+303_921+304insTGGAGCACTTCCTCTAACA	ENSP00000384531.2:n.921+303_921+304insTGGAGCACTTCCTCTAACA
ENST00000423007.5:c.1272+303_1272+304insTGGAGCACTTCCTCTAACA	ENSP00000404119.1:n.1272+303_1272+304insTGGAGCACTTCCTCTAACA
ENST00000485278.5:n.1827+303_1827+304insTGGAGCACTTCCTCTAACA
NM_001077365.1:c.1272+303_1272+304insTGGAGCACTTCCTCTAACA	NP_001070833.1:n.1272+303_1272+304insTGGAGCACTTCCTCTAACA
NM_001077366.1:c.1110+303_1110+304insTGGAGCACTTCCTCTAACA	NP_001070834.1:n.1110+303_1110+304insTGGAGCACTTCCTCTAACA
NM_001136113.1:c.1272+303_1272+304insTGGAGCACTTCCTCTAACA	NP_001129585.1:n.1272+303_1272+304insTGGAGCACTTCCTCTAACA
NM_001136114.1:c.921+303_921+304insTGGAGCACTTCCTCTAACA	NP_001129586.1:n.921+303_921+304insTGGAGCACTTCCTCTAACA
NM_007171.3:c.1338+303_1338+304insTGGAGCACTTCCTCTAACA	NP_009102.3:n.1338+303_1338+304insTGGAGCACTTCCTCTAACA
XM_005272156.1:c.1338+303_1338+304insTGGAGCACTTCCTCTAACA	XP_005272213.1:n.1338+303_1338+304insTGGAGCACTTCCTCTAACA
XM_005272158.1:c.1176+303_1176+304insTGGAGCACTTCCTCTAACA	XP_005272215.1:n.1176+303_1176+304insTGGAGCACTTCCTCTAACA
XM_005272159.1:c.987+303_987+304insTGGAGCACTTCCTCTAACA	XP_005272216.1:n.987+303_987+304insTGGAGCACTTCCTCTAACA
XM_005272162.1:c.141+303_141+304insTGGAGCACTTCCTCTAACA	XP_005272219.1:n.141+303_141+304insTGGAGCACTTCCTCTAACA
XM_006716932.1:c.987+303_987+304insTGGAGCACTTCCTCTAACA	XP_006716995.1:n.987+303_987+304insTGGAGCACTTCCTCTAACA
XM_011518140.1:c.1191+303_1191+304insTGGAGCACTTCCTCTAACA	XP_011516442.1:n.1191+303_1191+304insTGGAGCACTTCCTCTAACA
XM_011518141.1:c.1125+303_1125+304insTGGAGCACTTCCTCTAACA	XP_011516443.1:n.1125+303_1125+304insTGGAGCACTTCCTCTAACA
XM_011518142.1:c.1029+303_1029+304insTGGAGCACTTCCTCTAACA	XP_011516444.1:n.1029+303_1029+304insTGGAGCACTTCCTCTAACA
XM_011518143.1:c.1023+303_1023+304insTGGAGCACTTCCTCTAACA	XP_011516445.1:n.1023+303_1023+304insTGGAGCACTTCCTCTAACA
XM_011518144.1:c.1338+303_1338+304insTGGAGCACTTCCTCTAACA	XP_011516446.1:n.1338+303_1338+304insTGGAGCACTTCCTCTAACA
XM_011518145.1:c.882+303_882+304insTGGAGCACTTCCTCTAACA	XP_011516447.1:n.882+303_882+304insTGGAGCACTTCCTCTAACA
XM_011518146.1:c.1023+303_1023+304insTGGAGCACTTCCTCTAACA	XP_011516448.1:n.1023+303_1023+304insTGGAGCACTTCCTCTAACA
XR_929703.1:n.1514+303_1514+304insTGGAGCACTTCCTCTAACA
NM_001353193.1:c.1338+303_1338+304insTGGAGCACTTCCTCTAACA	NP_001340122.1:n.1338+303_1338+304insTGGAGCACTTCCTCTAACA
NM_001353194.1:c.1110+303_1110+304insTGGAGCACTTCCTCTAACA	NP_001340123.1:n.1110+303_1110+304insTGGAGCACTTCCTCTAACA
NM_001353195.1:c.921+303_921+304insTGGAGCACTTCCTCTAACA	NP_001340124.1:n.921+303_921+304insTGGAGCACTTCCTCTAACA
NM_001353196.1:c.1182+303_1182+304insTGGAGCACTTCCTCTAACA	NP_001340125.1:n.1182+303_1182+304insTGGAGCACTTCCTCTAACA
NM_001353197.1:c.1176+303_1176+304insTGGAGCACTTCCTCTAACA	NP_001340126.1:n.1176+303_1176+304insTGGAGCACTTCCTCTAACA
NM_001353198.1:c.1176+303_1176+304insTGGAGCACTTCCTCTAACA	NP_001340127.1:n.1176+303_1176+304insTGGAGCACTTCCTCTAACA
NM_001353199.1:c.987+303_987+304insTGGAGCACTTCCTCTAACA	NP_001340128.1:n.987+303_987+304insTGGAGCACTTCCTCTAACA
NM_001353200.1:c.816+303_816+304insTGGAGCACTTCCTCTAACA	NP_001340129.1:n.816+303_816+304insTGGAGCACTTCCTCTAACA
NR_148391.1:n.1322+303_1322+304insTGGAGCACTTCCTCTAACA
NR_148392.1:n.1540+303_1540+304insTGGAGCACTTCCTCTAACA
NR_148393.1:n.1322+303_1322+304insTGGAGCACTTCCTCTAACA
NR_148394.1:n.1215+303_1215+304insTGGAGCACTTCCTCTAACA
NR_148395.1:n.1474+303_1474+304insTGGAGCACTTCCTCTAACA
NR_148396.1:n.1108+303_1108+304insTGGAGCACTTCCTCTAACA
NR_148397.1:n.1372+303_1372+304insTGGAGCACTTCCTCTAACA
NR_148398.1:n.1327+303_1327+304insTGGAGCACTTCCTCTAACA
NR_148399.1:n.1714+303_1714+304insTGGAGCACTTCCTCTAACA
NR_148400.1:n.1313+303_1313+304insTGGAGCACTTCCTCTAACA
XM_005272162.3:c.141+303_141+304insTGGAGCACTTCCTCTAACA	XP_005272219.1:n.141+303_141+304insTGGAGCACTTCCTCTAACA
XM_006716932.2:c.987+303_987+304insTGGAGCACTTCCTCTAACA	XP_006716995.1:n.987+303_987+304insTGGAGCACTTCCTCTAACA
XM_011518140.2:c.1191+303_1191+304insTGGAGCACTTCCTCTAACA	XP_011516442.1:n.1191+303_1191+304insTGGAGCACTTCCTCTAACA
XM_011518141.2:c.1125+303_1125+304insTGGAGCACTTCCTCTAACA	XP_011516443.1:n.1125+303_1125+304insTGGAGCACTTCCTCTAACA
XM_011518142.2:c.1029+303_1029+304insTGGAGCACTTCCTCTAACA	XP_011516444.1:n.1029+303_1029+304insTGGAGCACTTCCTCTAACA
XM_011518143.2:c.1023+303_1023+304insTGGAGCACTTCCTCTAACA	XP_011516445.1:n.1023+303_1023+304insTGGAGCACTTCCTCTAACA
XM_011518145.2:c.882+303_882+304insTGGAGCACTTCCTCTAACA	XP_011516447.1:n.882+303_882+304insTGGAGCACTTCCTCTAACA
XM_017014205.2:c.141+303_141+304insTGGAGCACTTCCTCTAACA	XP_016869694.1:n.141+303_141+304insTGGAGCACTTCCTCTAACA
XM_024447380.1:c.141+303_141+304insTGGAGCACTTCCTCTAACA	XP_024303148.1:n.141+303_141+304insTGGAGCACTTCCTCTAACA
XM_024447381.1:c.447+303_447+304insTGGAGCACTTCCTCTAACA	XP_024303149.1:n.447+303_447+304insTGGAGCACTTCCTCTAACA
XM_024447382.1:c.141+303_141+304insTGGAGCACTTCCTCTAACA	XP_024303150.1:n.141+303_141+304insTGGAGCACTTCCTCTAACA
XR_001746160.2:n.1442+303_1442+304insTGGAGCACTTCCTCTAACA
XR_001746162.2:n.1508+303_1508+304insTGGAGCACTTCCTCTAACA
XR_001746164.1:n.1225+303_1225+304insTGGAGCACTTCCTCTAACA
XR_001746166.2:n.1659+303_1659+304insTGGAGCACTTCCTCTAACA
NM_001077365.2:c.1272+303_1272+304insTGGAGCACTTCCTCTAACA MANE Select	NP_001070833.1:n.1272+303_1272+304insTGGAGCACTTCCTCTAACA
NM_001077366.2:c.1110+303_1110+304insTGGAGCACTTCCTCTAACA	NP_001070834.1:n.1110+303_1110+304insTGGAGCACTTCCTCTAACA
NM_001136113.2:c.1272+303_1272+304insTGGAGCACTTCCTCTAACA	NP_001129585.1:n.1272+303_1272+304insTGGAGCACTTCCTCTAACA
NM_001136114.2:c.921+303_921+304insTGGAGCACTTCCTCTAACA	NP_001129586.1:n.921+303_921+304insTGGAGCACTTCCTCTAACA
NM_001353193.2:c.1338+303_1338+304insTGGAGCACTTCCTCTAACA	NP_001340122.2:n.1338+303_1338+304insTGGAGCACTTCCTCTAACA
NM_001353194.2:c.1110+303_1110+304insTGGAGCACTTCCTCTAACA	NP_001340123.1:n.1110+303_1110+304insTGGAGCACTTCCTCTAACA
NM_001353195.2:c.921+303_921+304insTGGAGCACTTCCTCTAACA	NP_001340124.1:n.921+303_921+304insTGGAGCACTTCCTCTAACA
NM_001353196.2:c.1182+303_1182+304insTGGAGCACTTCCTCTAACA	NP_001340125.1:n.1182+303_1182+304insTGGAGCACTTCCTCTAACA
NM_001353197.2:c.1176+303_1176+304insTGGAGCACTTCCTCTAACA	NP_001340126.2:n.1176+303_1176+304insTGGAGCACTTCCTCTAACA
NM_001353198.2:c.1176+303_1176+304insTGGAGCACTTCCTCTAACA	NP_001340127.2:n.1176+303_1176+304insTGGAGCACTTCCTCTAACA
NM_001353199.2:c.987+303_987+304insTGGAGCACTTCCTCTAACA	NP_001340128.2:n.987+303_987+304insTGGAGCACTTCCTCTAACA
NM_001353200.2:c.816+303_816+304insTGGAGCACTTCCTCTAACA	NP_001340129.1:n.816+303_816+304insTGGAGCACTTCCTCTAACA
NM_001374689.1:c.1260+303_1260+304insTGGAGCACTTCCTCTAACA	NP_001361618.1:n.1260+303_1260+304insTGGAGCACTTCCTCTAACA
NM_001374690.1:c.1272+303_1272+304insTGGAGCACTTCCTCTAACA	NP_001361619.1:n.1272+303_1272+304insTGGAGCACTTCCTCTAACA
NM_001374691.1:c.921+303_921+304insTGGAGCACTTCCTCTAACA	NP_001361620.1:n.921+303_921+304insTGGAGCACTTCCTCTAACA
NM_001374692.1:c.921+303_921+304insTGGAGCACTTCCTCTAACA	NP_001361621.1:n.921+303_921+304insTGGAGCACTTCCTCTAACA
NM_001374693.1:c.921+303_921+304insTGGAGCACTTCCTCTAACA	NP_001361622.1:n.921+303_921+304insTGGAGCACTTCCTCTAACA
NM_001374695.1:c.882+303_882+304insTGGAGCACTTCCTCTAACA	NP_001361624.1:n.882+303_882+304insTGGAGCACTTCCTCTAACA
NM_007171.4:c.1338+303_1338+304insTGGAGCACTTCCTCTAACA	NP_009102.4:n.1338+303_1338+304insTGGAGCACTTCCTCTAACA
NR_148391.2:n.1306+303_1306+304insTGGAGCACTTCCTCTAACA
NR_148392.2:n.1524+303_1524+304insTGGAGCACTTCCTCTAACA
NR_148393.2:n.1306+303_1306+304insTGGAGCACTTCCTCTAACA
NR_148394.2:n.1199+303_1199+304insTGGAGCACTTCCTCTAACA
NR_148395.2:n.1458+303_1458+304insTGGAGCACTTCCTCTAACA
NR_148396.2:n.1092+303_1092+304insTGGAGCACTTCCTCTAACA
NR_148397.2:n.1356+303_1356+304insTGGAGCACTTCCTCTAACA
NR_148398.2:n.1311+303_1311+304insTGGAGCACTTCCTCTAACA
NR_148399.2:n.1698+303_1698+304insTGGAGCACTTCCTCTAACA
NR_148400.2:n.1297+303_1297+304insTGGAGCACTTCCTCTAACA