Canonical Allele Identifier: CA2692219051

Gene: POMT1

Linked Data

• gnomAD v4: 9-131515661-A-AACAGGACACTTCCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515664_131515665insGGACACTTCCTCACA , CM000671.2:g.131515664_131515665insGGACACTTCCTCACA	GRCh38
NC_000009.11:g.134391051_134391052insGGACACTTCCTCACA , CM000671.1:g.134391051_134391052insGGACACTTCCTCACA	GRCh37
NC_000009.10:g.133380872_133380873insGGACACTTCCTCACA	NCBI36
NG_008896.1:g.17763_17764insGGACACTTCCTCACA
NG_008896.2:g.17763_17764insGGACACTTCCTCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+142_1110+143insGGACACTTCCTCACA	ENSP00000343034.7:n.1110+142_1110+143insGGACACTTCCTCACA
ENST00000404875.7:n.1812+142_1812+143insGGACACTTCCTCACA
ENST00000423007.6:c.1329+142_1329+143insGGACACTTCCTCACA	ENSP00000404119.2:n.1329+142_1329+143insGGACACTTCCTCACA
ENST00000677295.2:c.*1616+142_*1616+143insGGACACTTCCTCACA	ENSP00000504346.2:n.*1616+142_*1616+143insGGACACTTCCTCACA
ENST00000678264.2:c.*1455+142_*1455+143insGGACACTTCCTCACA	ENSP00000503157.2:n.*1455+142_*1455+143insGGACACTTCCTCACA
ENST00000682070.1:n.1737+142_1737+143insGGACACTTCCTCACA
ENST00000682539.1:c.97+142_97+143insGGACACTTCCTCACA
ENST00000682813.1:n.1537+142_1537+143insGGACACTTCCTCACA
ENST00000683392.1:n.4019+142_4019+143insGGACACTTCCTCACA
ENST00000683712.1:n.1677+142_1677+143insGGACACTTCCTCACA
ENST00000683900.1:n.3172+142_3172+143insGGACACTTCCTCACA
ENST00000684062.1:n.1938+142_1938+143insGGACACTTCCTCACA
ENST00000684579.1:n.3118+142_3118+143insGGACACTTCCTCACA
ENST00000341012.12:c.1110+142_1110+143insGGACACTTCCTCACA	ENSP00000343034.7:n.1110+142_1110+143insGGACACTTCCTCACA
ENST00000372220.5:c.141+142_141+143insGGACACTTCCTCACA	ENSP00000361294.5:n.141+142_141+143insGGACACTTCCTCACA
ENST00000372228.9:c.1338+142_1338+143insGGACACTTCCTCACA	ENSP00000361302.3:n.1338+142_1338+143insGGACACTTCCTCACA
ENST00000402686.8:c.1272+142_1272+143insGGACACTTCCTCACA MANE Select	ENSP00000385797.4:n.1272+142_1272+143insGGACACTTCCTCACA
ENST00000676640.1:c.1272+142_1272+143insGGACACTTCCTCACA	ENSP00000503281.1:n.1272+142_1272+143insGGACACTTCCTCACA
ENST00000676803.1:c.447+142_447+143insGGACACTTCCTCACA	ENSP00000503093.1:n.447+142_447+143insGGACACTTCCTCACA
ENST00000676835.1:c.*487+142_*487+143insGGACACTTCCTCACA	ENSP00000502911.1:n.*487+142_*487+143insGGACACTTCCTCACA
ENST00000677029.1:c.816+142_816+143insGGACACTTCCTCACA	ENSP00000502936.1:n.816+142_816+143insGGACACTTCCTCACA
ENST00000677099.1:c.*982+142_*982+143insGGACACTTCCTCACA	ENSP00000504553.1:n.*982+142_*982+143insGGACACTTCCTCACA
ENST00000677216.1:c.921+142_921+143insGGACACTTCCTCACA	ENSP00000503772.1:n.921+142_921+143insGGACACTTCCTCACA
ENST00000677295.1:c.*649+142_*649+143insGGACACTTCCTCACA	ENSP00000504346.1:n.*649+142_*649+143insGGACACTTCCTCACA
ENST00000677444.1:c.1078+142_1078+143insGGACACTTCCTCACA
ENST00000677586.1:n.753+142_753+143insGGACACTTCCTCACA
ENST00000677626.1:c.921+142_921+143insGGACACTTCCTCACA	ENSP00000503552.1:n.921+142_921+143insGGACACTTCCTCACA
ENST00000677677.1:n.1232+142_1232+143insGGACACTTCCTCACA
ENST00000677853.1:c.*280+142_*280+143insGGACACTTCCTCACA	ENSP00000503488.1:n.*280+142_*280+143insGGACACTTCCTCACA
ENST00000677944.1:c.534+142_534+143insGGACACTTCCTCACA
ENST00000678264.1:c.*649+142_*649+143insGGACACTTCCTCACA	ENSP00000503157.1:n.*649+142_*649+143insGGACACTTCCTCACA
ENST00000678303.1:c.1182+142_1182+143insGGACACTTCCTCACA	ENSP00000503696.1:n.1182+142_1182+143insGGACACTTCCTCACA
ENST00000678366.1:c.*1521+142_*1521+143insGGACACTTCCTCACA	ENSP00000504353.1:n.*1521+142_*1521+143insGGACACTTCCTCACA
ENST00000678546.1:c.*1217+142_*1217+143insGGACACTTCCTCACA	ENSP00000503062.1:n.*1217+142_*1217+143insGGACACTTCCTCACA
ENST00000678548.1:c.*1344+142_*1344+143insGGACACTTCCTCACA	ENSP00000503934.1:n.*1344+142_*1344+143insGGACACTTCCTCACA
ENST00000678626.1:n.969+142_969+143insGGACACTTCCTCACA
ENST00000678733.1:c.353+142_353+143insGGACACTTCCTCACA
ENST00000678739.1:c.*1598+142_*1598+143insGGACACTTCCTCACA	ENSP00000503806.1:n.*1598+142_*1598+143insGGACACTTCCTCACA
ENST00000678795.1:n.359+142_359+143insGGACACTTCCTCACA
ENST00000678833.1:c.*719+142_*719+143insGGACACTTCCTCACA	ENSP00000503893.1:n.*719+142_*719+143insGGACACTTCCTCACA
ENST00000678942.1:c.452+142_452+143insGGACACTTCCTCACA	ENSP00000504690.1:n.452+142_452+143insGGACACTTCCTCACA
ENST00000679023.1:c.1110+142_1110+143insGGACACTTCCTCACA	ENSP00000503718.1:n.1110+142_1110+143insGGACACTTCCTCACA
ENST00000679076.1:c.891+142_891+143insGGACACTTCCTCACA
ENST00000679111.1:c.1272+142_1272+143insGGACACTTCCTCACA	ENSP00000504257.1:n.1272+142_1272+143insGGACACTTCCTCACA
ENST00000679189.1:c.921+142_921+143insGGACACTTCCTCACA	ENSP00000503356.1:n.921+142_921+143insGGACACTTCCTCACA
ENST00000341012.11:c.1110+142_1110+143insGGACACTTCCTCACA	ENSP00000343034.7:n.1110+142_1110+143insGGACACTTCCTCACA
ENST00000372228.7:c.1338+142_1338+143insGGACACTTCCTCACA	ENSP00000361302.3:n.1338+142_1338+143insGGACACTTCCTCACA
ENST00000402686.7:c.1272+142_1272+143insGGACACTTCCTCACA	ENSP00000385797.3:n.1272+142_1272+143insGGACACTTCCTCACA
ENST00000404875.6:c.921+142_921+143insGGACACTTCCTCACA	ENSP00000384531.2:n.921+142_921+143insGGACACTTCCTCACA
ENST00000423007.5:c.1272+142_1272+143insGGACACTTCCTCACA	ENSP00000404119.1:n.1272+142_1272+143insGGACACTTCCTCACA
ENST00000485278.5:n.1827+142_1827+143insGGACACTTCCTCACA
NM_001077365.1:c.1272+142_1272+143insGGACACTTCCTCACA	NP_001070833.1:n.1272+142_1272+143insGGACACTTCCTCACA
NM_001077366.1:c.1110+142_1110+143insGGACACTTCCTCACA	NP_001070834.1:n.1110+142_1110+143insGGACACTTCCTCACA
NM_001136113.1:c.1272+142_1272+143insGGACACTTCCTCACA	NP_001129585.1:n.1272+142_1272+143insGGACACTTCCTCACA
NM_001136114.1:c.921+142_921+143insGGACACTTCCTCACA	NP_001129586.1:n.921+142_921+143insGGACACTTCCTCACA
NM_007171.3:c.1338+142_1338+143insGGACACTTCCTCACA	NP_009102.3:n.1338+142_1338+143insGGACACTTCCTCACA
XM_005272156.1:c.1338+142_1338+143insGGACACTTCCTCACA	XP_005272213.1:n.1338+142_1338+143insGGACACTTCCTCACA
XM_005272158.1:c.1176+142_1176+143insGGACACTTCCTCACA	XP_005272215.1:n.1176+142_1176+143insGGACACTTCCTCACA
XM_005272159.1:c.987+142_987+143insGGACACTTCCTCACA	XP_005272216.1:n.987+142_987+143insGGACACTTCCTCACA
XM_005272162.1:c.141+142_141+143insGGACACTTCCTCACA	XP_005272219.1:n.141+142_141+143insGGACACTTCCTCACA
XM_006716932.1:c.987+142_987+143insGGACACTTCCTCACA	XP_006716995.1:n.987+142_987+143insGGACACTTCCTCACA
XM_011518140.1:c.1191+142_1191+143insGGACACTTCCTCACA	XP_011516442.1:n.1191+142_1191+143insGGACACTTCCTCACA
XM_011518141.1:c.1125+142_1125+143insGGACACTTCCTCACA	XP_011516443.1:n.1125+142_1125+143insGGACACTTCCTCACA
XM_011518142.1:c.1029+142_1029+143insGGACACTTCCTCACA	XP_011516444.1:n.1029+142_1029+143insGGACACTTCCTCACA
XM_011518143.1:c.1023+142_1023+143insGGACACTTCCTCACA	XP_011516445.1:n.1023+142_1023+143insGGACACTTCCTCACA
XM_011518144.1:c.1338+142_1338+143insGGACACTTCCTCACA	XP_011516446.1:n.1338+142_1338+143insGGACACTTCCTCACA
XM_011518145.1:c.882+142_882+143insGGACACTTCCTCACA	XP_011516447.1:n.882+142_882+143insGGACACTTCCTCACA
XM_011518146.1:c.1023+142_1023+143insGGACACTTCCTCACA	XP_011516448.1:n.1023+142_1023+143insGGACACTTCCTCACA
XR_929703.1:n.1514+142_1514+143insGGACACTTCCTCACA
NM_001353193.1:c.1338+142_1338+143insGGACACTTCCTCACA	NP_001340122.1:n.1338+142_1338+143insGGACACTTCCTCACA
NM_001353194.1:c.1110+142_1110+143insGGACACTTCCTCACA	NP_001340123.1:n.1110+142_1110+143insGGACACTTCCTCACA
NM_001353195.1:c.921+142_921+143insGGACACTTCCTCACA	NP_001340124.1:n.921+142_921+143insGGACACTTCCTCACA
NM_001353196.1:c.1182+142_1182+143insGGACACTTCCTCACA	NP_001340125.1:n.1182+142_1182+143insGGACACTTCCTCACA
NM_001353197.1:c.1176+142_1176+143insGGACACTTCCTCACA	NP_001340126.1:n.1176+142_1176+143insGGACACTTCCTCACA
NM_001353198.1:c.1176+142_1176+143insGGACACTTCCTCACA	NP_001340127.1:n.1176+142_1176+143insGGACACTTCCTCACA
NM_001353199.1:c.987+142_987+143insGGACACTTCCTCACA	NP_001340128.1:n.987+142_987+143insGGACACTTCCTCACA
NM_001353200.1:c.816+142_816+143insGGACACTTCCTCACA	NP_001340129.1:n.816+142_816+143insGGACACTTCCTCACA
NR_148391.1:n.1322+142_1322+143insGGACACTTCCTCACA
NR_148392.1:n.1540+142_1540+143insGGACACTTCCTCACA
NR_148393.1:n.1322+142_1322+143insGGACACTTCCTCACA
NR_148394.1:n.1215+142_1215+143insGGACACTTCCTCACA
NR_148395.1:n.1474+142_1474+143insGGACACTTCCTCACA
NR_148396.1:n.1108+142_1108+143insGGACACTTCCTCACA
NR_148397.1:n.1372+142_1372+143insGGACACTTCCTCACA
NR_148398.1:n.1327+142_1327+143insGGACACTTCCTCACA
NR_148399.1:n.1714+142_1714+143insGGACACTTCCTCACA
NR_148400.1:n.1313+142_1313+143insGGACACTTCCTCACA
XM_005272162.3:c.141+142_141+143insGGACACTTCCTCACA	XP_005272219.1:n.141+142_141+143insGGACACTTCCTCACA
XM_006716932.2:c.987+142_987+143insGGACACTTCCTCACA	XP_006716995.1:n.987+142_987+143insGGACACTTCCTCACA
XM_011518140.2:c.1191+142_1191+143insGGACACTTCCTCACA	XP_011516442.1:n.1191+142_1191+143insGGACACTTCCTCACA
XM_011518141.2:c.1125+142_1125+143insGGACACTTCCTCACA	XP_011516443.1:n.1125+142_1125+143insGGACACTTCCTCACA
XM_011518142.2:c.1029+142_1029+143insGGACACTTCCTCACA	XP_011516444.1:n.1029+142_1029+143insGGACACTTCCTCACA
XM_011518143.2:c.1023+142_1023+143insGGACACTTCCTCACA	XP_011516445.1:n.1023+142_1023+143insGGACACTTCCTCACA
XM_011518145.2:c.882+142_882+143insGGACACTTCCTCACA	XP_011516447.1:n.882+142_882+143insGGACACTTCCTCACA
XM_017014205.2:c.141+142_141+143insGGACACTTCCTCACA	XP_016869694.1:n.141+142_141+143insGGACACTTCCTCACA
XM_024447380.1:c.141+142_141+143insGGACACTTCCTCACA	XP_024303148.1:n.141+142_141+143insGGACACTTCCTCACA
XM_024447381.1:c.447+142_447+143insGGACACTTCCTCACA	XP_024303149.1:n.447+142_447+143insGGACACTTCCTCACA
XM_024447382.1:c.141+142_141+143insGGACACTTCCTCACA	XP_024303150.1:n.141+142_141+143insGGACACTTCCTCACA
XR_001746160.2:n.1442+142_1442+143insGGACACTTCCTCACA
XR_001746162.2:n.1508+142_1508+143insGGACACTTCCTCACA
XR_001746164.1:n.1225+142_1225+143insGGACACTTCCTCACA
XR_001746166.2:n.1659+142_1659+143insGGACACTTCCTCACA
NM_001077365.2:c.1272+142_1272+143insGGACACTTCCTCACA MANE Select	NP_001070833.1:n.1272+142_1272+143insGGACACTTCCTCACA
NM_001077366.2:c.1110+142_1110+143insGGACACTTCCTCACA	NP_001070834.1:n.1110+142_1110+143insGGACACTTCCTCACA
NM_001136113.2:c.1272+142_1272+143insGGACACTTCCTCACA	NP_001129585.1:n.1272+142_1272+143insGGACACTTCCTCACA
NM_001136114.2:c.921+142_921+143insGGACACTTCCTCACA	NP_001129586.1:n.921+142_921+143insGGACACTTCCTCACA
NM_001353193.2:c.1338+142_1338+143insGGACACTTCCTCACA	NP_001340122.2:n.1338+142_1338+143insGGACACTTCCTCACA
NM_001353194.2:c.1110+142_1110+143insGGACACTTCCTCACA	NP_001340123.1:n.1110+142_1110+143insGGACACTTCCTCACA
NM_001353195.2:c.921+142_921+143insGGACACTTCCTCACA	NP_001340124.1:n.921+142_921+143insGGACACTTCCTCACA
NM_001353196.2:c.1182+142_1182+143insGGACACTTCCTCACA	NP_001340125.1:n.1182+142_1182+143insGGACACTTCCTCACA
NM_001353197.2:c.1176+142_1176+143insGGACACTTCCTCACA	NP_001340126.2:n.1176+142_1176+143insGGACACTTCCTCACA
NM_001353198.2:c.1176+142_1176+143insGGACACTTCCTCACA	NP_001340127.2:n.1176+142_1176+143insGGACACTTCCTCACA
NM_001353199.2:c.987+142_987+143insGGACACTTCCTCACA	NP_001340128.2:n.987+142_987+143insGGACACTTCCTCACA
NM_001353200.2:c.816+142_816+143insGGACACTTCCTCACA	NP_001340129.1:n.816+142_816+143insGGACACTTCCTCACA
NM_001374689.1:c.1260+142_1260+143insGGACACTTCCTCACA	NP_001361618.1:n.1260+142_1260+143insGGACACTTCCTCACA
NM_001374690.1:c.1272+142_1272+143insGGACACTTCCTCACA	NP_001361619.1:n.1272+142_1272+143insGGACACTTCCTCACA
NM_001374691.1:c.921+142_921+143insGGACACTTCCTCACA	NP_001361620.1:n.921+142_921+143insGGACACTTCCTCACA
NM_001374692.1:c.921+142_921+143insGGACACTTCCTCACA	NP_001361621.1:n.921+142_921+143insGGACACTTCCTCACA
NM_001374693.1:c.921+142_921+143insGGACACTTCCTCACA	NP_001361622.1:n.921+142_921+143insGGACACTTCCTCACA
NM_001374695.1:c.882+142_882+143insGGACACTTCCTCACA	NP_001361624.1:n.882+142_882+143insGGACACTTCCTCACA
NM_007171.4:c.1338+142_1338+143insGGACACTTCCTCACA	NP_009102.4:n.1338+142_1338+143insGGACACTTCCTCACA
NR_148391.2:n.1306+142_1306+143insGGACACTTCCTCACA
NR_148392.2:n.1524+142_1524+143insGGACACTTCCTCACA
NR_148393.2:n.1306+142_1306+143insGGACACTTCCTCACA
NR_148394.2:n.1199+142_1199+143insGGACACTTCCTCACA
NR_148395.2:n.1458+142_1458+143insGGACACTTCCTCACA
NR_148396.2:n.1092+142_1092+143insGGACACTTCCTCACA
NR_148397.2:n.1356+142_1356+143insGGACACTTCCTCACA
NR_148398.2:n.1311+142_1311+143insGGACACTTCCTCACA
NR_148399.2:n.1698+142_1698+143insGGACACTTCCTCACA
NR_148400.2:n.1297+142_1297+143insGGACACTTCCTCACA