Canonical Allele Identifier: CA1129598185

Gene: POMT1

Linked Data

• gnomAD v3: 9-131515870-T-TCACACGGAACACTTC
• gnomAD v4: 9-131515870-T-TCACACGGAACACTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515871_131515872insACACGGAACACTTCC , CM000671.2:g.131515871_131515872insACACGGAACACTTCC	GRCh38
NC_000009.11:g.134391258_134391259insACACGGAACACTTCC , CM000671.1:g.134391258_134391259insACACGGAACACTTCC	GRCh37
NC_000009.10:g.133381079_133381080insACACGGAACACTTCC	NCBI36
NG_008896.1:g.17970_17971insACACGGAACACTTCC
NG_008896.2:g.17970_17971insACACGGAACACTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+349_1110+350insACACGGAACACTTCC	ENSP00000343034.7:n.1110+349_1110+350insACACGGAACACTTCC
ENST00000404875.7:n.1812+349_1812+350insACACGGAACACTTCC
ENST00000423007.6:c.1329+349_1329+350insACACGGAACACTTCC	ENSP00000404119.2:n.1329+349_1329+350insACACGGAACACTTCC
ENST00000677295.2:c.*1616+349_*1616+350insACACGGAACACTTCC	ENSP00000504346.2:n.*1616+349_*1616+350insACACGGAACACTTCC
ENST00000678264.2:c.*1455+349_*1455+350insACACGGAACACTTCC	ENSP00000503157.2:n.*1455+349_*1455+350insACACGGAACACTTCC
ENST00000682070.1:n.1737+349_1737+350insACACGGAACACTTCC
ENST00000682539.1:c.97+349_97+350insACACGGAACACTTCC
ENST00000682813.1:n.1537+349_1537+350insACACGGAACACTTCC
ENST00000683392.1:n.4019+349_4019+350insACACGGAACACTTCC
ENST00000683712.1:n.1677+349_1677+350insACACGGAACACTTCC
ENST00000683900.1:n.3172+349_3172+350insACACGGAACACTTCC
ENST00000684062.1:n.1938+349_1938+350insACACGGAACACTTCC
ENST00000684579.1:n.3118+349_3118+350insACACGGAACACTTCC
ENST00000341012.12:c.1110+349_1110+350insACACGGAACACTTCC	ENSP00000343034.7:n.1110+349_1110+350insACACGGAACACTTCC
ENST00000372220.5:c.141+349_141+350insACACGGAACACTTCC	ENSP00000361294.5:n.141+349_141+350insACACGGAACACTTCC
ENST00000372228.9:c.1338+349_1338+350insACACGGAACACTTCC	ENSP00000361302.3:n.1338+349_1338+350insACACGGAACACTTCC
ENST00000402686.8:c.1272+349_1272+350insACACGGAACACTTCC MANE Select	ENSP00000385797.4:n.1272+349_1272+350insACACGGAACACTTCC
ENST00000676640.1:c.1272+349_1272+350insACACGGAACACTTCC	ENSP00000503281.1:n.1272+349_1272+350insACACGGAACACTTCC
ENST00000676803.1:c.447+349_447+350insACACGGAACACTTCC	ENSP00000503093.1:n.447+349_447+350insACACGGAACACTTCC
ENST00000676835.1:c.*487+349_*487+350insACACGGAACACTTCC	ENSP00000502911.1:n.*487+349_*487+350insACACGGAACACTTCC
ENST00000677029.1:c.816+349_816+350insACACGGAACACTTCC	ENSP00000502936.1:n.816+349_816+350insACACGGAACACTTCC
ENST00000677099.1:c.*982+349_*982+350insACACGGAACACTTCC	ENSP00000504553.1:n.*982+349_*982+350insACACGGAACACTTCC
ENST00000677216.1:c.921+349_921+350insACACGGAACACTTCC	ENSP00000503772.1:n.921+349_921+350insACACGGAACACTTCC
ENST00000677295.1:c.*649+349_*649+350insACACGGAACACTTCC	ENSP00000504346.1:n.*649+349_*649+350insACACGGAACACTTCC
ENST00000677444.1:c.1078+349_1078+350insACACGGAACACTTCC
ENST00000677586.1:n.753+349_753+350insACACGGAACACTTCC
ENST00000677626.1:c.921+349_921+350insACACGGAACACTTCC	ENSP00000503552.1:n.921+349_921+350insACACGGAACACTTCC
ENST00000677677.1:n.1232+349_1232+350insACACGGAACACTTCC
ENST00000677853.1:c.*280+349_*280+350insACACGGAACACTTCC	ENSP00000503488.1:n.*280+349_*280+350insACACGGAACACTTCC
ENST00000677944.1:c.534+349_534+350insACACGGAACACTTCC
ENST00000678264.1:c.*649+349_*649+350insACACGGAACACTTCC	ENSP00000503157.1:n.*649+349_*649+350insACACGGAACACTTCC
ENST00000678303.1:c.1182+349_1182+350insACACGGAACACTTCC	ENSP00000503696.1:n.1182+349_1182+350insACACGGAACACTTCC
ENST00000678366.1:c.*1521+349_*1521+350insACACGGAACACTTCC	ENSP00000504353.1:n.*1521+349_*1521+350insACACGGAACACTTCC
ENST00000678546.1:c.*1217+349_*1217+350insACACGGAACACTTCC	ENSP00000503062.1:n.*1217+349_*1217+350insACACGGAACACTTCC
ENST00000678548.1:c.*1344+349_*1344+350insACACGGAACACTTCC	ENSP00000503934.1:n.*1344+349_*1344+350insACACGGAACACTTCC
ENST00000678626.1:n.969+349_969+350insACACGGAACACTTCC
ENST00000678733.1:c.353+349_353+350insACACGGAACACTTCC
ENST00000678739.1:c.*1598+349_*1598+350insACACGGAACACTTCC	ENSP00000503806.1:n.*1598+349_*1598+350insACACGGAACACTTCC
ENST00000678795.1:n.359+349_359+350insACACGGAACACTTCC
ENST00000678833.1:c.*719+349_*719+350insACACGGAACACTTCC	ENSP00000503893.1:n.*719+349_*719+350insACACGGAACACTTCC
ENST00000678942.1:c.452+349_452+350insACACGGAACACTTCC	ENSP00000504690.1:n.452+349_452+350insACACGGAACACTTCC
ENST00000679023.1:c.1110+349_1110+350insACACGGAACACTTCC	ENSP00000503718.1:n.1110+349_1110+350insACACGGAACACTTCC
ENST00000679076.1:c.891+349_891+350insACACGGAACACTTCC
ENST00000679111.1:c.1272+349_1272+350insACACGGAACACTTCC	ENSP00000504257.1:n.1272+349_1272+350insACACGGAACACTTCC
ENST00000679189.1:c.921+349_921+350insACACGGAACACTTCC	ENSP00000503356.1:n.921+349_921+350insACACGGAACACTTCC
ENST00000341012.11:c.1110+349_1110+350insACACGGAACACTTCC	ENSP00000343034.7:n.1110+349_1110+350insACACGGAACACTTCC
ENST00000372228.7:c.1338+349_1338+350insACACGGAACACTTCC	ENSP00000361302.3:n.1338+349_1338+350insACACGGAACACTTCC
ENST00000402686.7:c.1272+349_1272+350insACACGGAACACTTCC	ENSP00000385797.3:n.1272+349_1272+350insACACGGAACACTTCC
ENST00000404875.6:c.921+349_921+350insACACGGAACACTTCC	ENSP00000384531.2:n.921+349_921+350insACACGGAACACTTCC
ENST00000423007.5:c.1272+349_1272+350insACACGGAACACTTCC	ENSP00000404119.1:n.1272+349_1272+350insACACGGAACACTTCC
ENST00000485278.5:n.1827+349_1827+350insACACGGAACACTTCC
NM_001077365.1:c.1272+349_1272+350insACACGGAACACTTCC	NP_001070833.1:n.1272+349_1272+350insACACGGAACACTTCC
NM_001077366.1:c.1110+349_1110+350insACACGGAACACTTCC	NP_001070834.1:n.1110+349_1110+350insACACGGAACACTTCC
NM_001136113.1:c.1272+349_1272+350insACACGGAACACTTCC	NP_001129585.1:n.1272+349_1272+350insACACGGAACACTTCC
NM_001136114.1:c.921+349_921+350insACACGGAACACTTCC	NP_001129586.1:n.921+349_921+350insACACGGAACACTTCC
NM_007171.3:c.1338+349_1338+350insACACGGAACACTTCC	NP_009102.3:n.1338+349_1338+350insACACGGAACACTTCC
XM_005272156.1:c.1338+349_1338+350insACACGGAACACTTCC	XP_005272213.1:n.1338+349_1338+350insACACGGAACACTTCC
XM_005272158.1:c.1176+349_1176+350insACACGGAACACTTCC	XP_005272215.1:n.1176+349_1176+350insACACGGAACACTTCC
XM_005272159.1:c.987+349_987+350insACACGGAACACTTCC	XP_005272216.1:n.987+349_987+350insACACGGAACACTTCC
XM_005272162.1:c.141+349_141+350insACACGGAACACTTCC	XP_005272219.1:n.141+349_141+350insACACGGAACACTTCC
XM_006716932.1:c.987+349_987+350insACACGGAACACTTCC	XP_006716995.1:n.987+349_987+350insACACGGAACACTTCC
XM_011518140.1:c.1191+349_1191+350insACACGGAACACTTCC	XP_011516442.1:n.1191+349_1191+350insACACGGAACACTTCC
XM_011518141.1:c.1125+349_1125+350insACACGGAACACTTCC	XP_011516443.1:n.1125+349_1125+350insACACGGAACACTTCC
XM_011518142.1:c.1029+349_1029+350insACACGGAACACTTCC	XP_011516444.1:n.1029+349_1029+350insACACGGAACACTTCC
XM_011518143.1:c.1023+349_1023+350insACACGGAACACTTCC	XP_011516445.1:n.1023+349_1023+350insACACGGAACACTTCC
XM_011518144.1:c.1338+349_1338+350insACACGGAACACTTCC	XP_011516446.1:n.1338+349_1338+350insACACGGAACACTTCC
XM_011518145.1:c.882+349_882+350insACACGGAACACTTCC	XP_011516447.1:n.882+349_882+350insACACGGAACACTTCC
XM_011518146.1:c.1023+349_1023+350insACACGGAACACTTCC	XP_011516448.1:n.1023+349_1023+350insACACGGAACACTTCC
XR_929703.1:n.1514+349_1514+350insACACGGAACACTTCC
NM_001353193.1:c.1338+349_1338+350insACACGGAACACTTCC	NP_001340122.1:n.1338+349_1338+350insACACGGAACACTTCC
NM_001353194.1:c.1110+349_1110+350insACACGGAACACTTCC	NP_001340123.1:n.1110+349_1110+350insACACGGAACACTTCC
NM_001353195.1:c.921+349_921+350insACACGGAACACTTCC	NP_001340124.1:n.921+349_921+350insACACGGAACACTTCC
NM_001353196.1:c.1182+349_1182+350insACACGGAACACTTCC	NP_001340125.1:n.1182+349_1182+350insACACGGAACACTTCC
NM_001353197.1:c.1176+349_1176+350insACACGGAACACTTCC	NP_001340126.1:n.1176+349_1176+350insACACGGAACACTTCC
NM_001353198.1:c.1176+349_1176+350insACACGGAACACTTCC	NP_001340127.1:n.1176+349_1176+350insACACGGAACACTTCC
NM_001353199.1:c.987+349_987+350insACACGGAACACTTCC	NP_001340128.1:n.987+349_987+350insACACGGAACACTTCC
NM_001353200.1:c.816+349_816+350insACACGGAACACTTCC	NP_001340129.1:n.816+349_816+350insACACGGAACACTTCC
NR_148391.1:n.1322+349_1322+350insACACGGAACACTTCC
NR_148392.1:n.1540+349_1540+350insACACGGAACACTTCC
NR_148393.1:n.1322+349_1322+350insACACGGAACACTTCC
NR_148394.1:n.1215+349_1215+350insACACGGAACACTTCC
NR_148395.1:n.1474+349_1474+350insACACGGAACACTTCC
NR_148396.1:n.1108+349_1108+350insACACGGAACACTTCC
NR_148397.1:n.1372+349_1372+350insACACGGAACACTTCC
NR_148398.1:n.1327+349_1327+350insACACGGAACACTTCC
NR_148399.1:n.1714+349_1714+350insACACGGAACACTTCC
NR_148400.1:n.1313+349_1313+350insACACGGAACACTTCC
XM_005272162.3:c.141+349_141+350insACACGGAACACTTCC	XP_005272219.1:n.141+349_141+350insACACGGAACACTTCC
XM_006716932.2:c.987+349_987+350insACACGGAACACTTCC	XP_006716995.1:n.987+349_987+350insACACGGAACACTTCC
XM_011518140.2:c.1191+349_1191+350insACACGGAACACTTCC	XP_011516442.1:n.1191+349_1191+350insACACGGAACACTTCC
XM_011518141.2:c.1125+349_1125+350insACACGGAACACTTCC	XP_011516443.1:n.1125+349_1125+350insACACGGAACACTTCC
XM_011518142.2:c.1029+349_1029+350insACACGGAACACTTCC	XP_011516444.1:n.1029+349_1029+350insACACGGAACACTTCC
XM_011518143.2:c.1023+349_1023+350insACACGGAACACTTCC	XP_011516445.1:n.1023+349_1023+350insACACGGAACACTTCC
XM_011518145.2:c.882+349_882+350insACACGGAACACTTCC	XP_011516447.1:n.882+349_882+350insACACGGAACACTTCC
XM_017014205.2:c.141+349_141+350insACACGGAACACTTCC	XP_016869694.1:n.141+349_141+350insACACGGAACACTTCC
XM_024447380.1:c.141+349_141+350insACACGGAACACTTCC	XP_024303148.1:n.141+349_141+350insACACGGAACACTTCC
XM_024447381.1:c.447+349_447+350insACACGGAACACTTCC	XP_024303149.1:n.447+349_447+350insACACGGAACACTTCC
XM_024447382.1:c.141+349_141+350insACACGGAACACTTCC	XP_024303150.1:n.141+349_141+350insACACGGAACACTTCC
XR_001746160.2:n.1442+349_1442+350insACACGGAACACTTCC
XR_001746162.2:n.1508+349_1508+350insACACGGAACACTTCC
XR_001746164.1:n.1225+349_1225+350insACACGGAACACTTCC
XR_001746166.2:n.1659+349_1659+350insACACGGAACACTTCC
NM_001077365.2:c.1272+349_1272+350insACACGGAACACTTCC MANE Select	NP_001070833.1:n.1272+349_1272+350insACACGGAACACTTCC
NM_001077366.2:c.1110+349_1110+350insACACGGAACACTTCC	NP_001070834.1:n.1110+349_1110+350insACACGGAACACTTCC
NM_001136113.2:c.1272+349_1272+350insACACGGAACACTTCC	NP_001129585.1:n.1272+349_1272+350insACACGGAACACTTCC
NM_001136114.2:c.921+349_921+350insACACGGAACACTTCC	NP_001129586.1:n.921+349_921+350insACACGGAACACTTCC
NM_001353193.2:c.1338+349_1338+350insACACGGAACACTTCC	NP_001340122.2:n.1338+349_1338+350insACACGGAACACTTCC
NM_001353194.2:c.1110+349_1110+350insACACGGAACACTTCC	NP_001340123.1:n.1110+349_1110+350insACACGGAACACTTCC
NM_001353195.2:c.921+349_921+350insACACGGAACACTTCC	NP_001340124.1:n.921+349_921+350insACACGGAACACTTCC
NM_001353196.2:c.1182+349_1182+350insACACGGAACACTTCC	NP_001340125.1:n.1182+349_1182+350insACACGGAACACTTCC
NM_001353197.2:c.1176+349_1176+350insACACGGAACACTTCC	NP_001340126.2:n.1176+349_1176+350insACACGGAACACTTCC
NM_001353198.2:c.1176+349_1176+350insACACGGAACACTTCC	NP_001340127.2:n.1176+349_1176+350insACACGGAACACTTCC
NM_001353199.2:c.987+349_987+350insACACGGAACACTTCC	NP_001340128.2:n.987+349_987+350insACACGGAACACTTCC
NM_001353200.2:c.816+349_816+350insACACGGAACACTTCC	NP_001340129.1:n.816+349_816+350insACACGGAACACTTCC
NM_001374689.1:c.1260+349_1260+350insACACGGAACACTTCC	NP_001361618.1:n.1260+349_1260+350insACACGGAACACTTCC
NM_001374690.1:c.1272+349_1272+350insACACGGAACACTTCC	NP_001361619.1:n.1272+349_1272+350insACACGGAACACTTCC
NM_001374691.1:c.921+349_921+350insACACGGAACACTTCC	NP_001361620.1:n.921+349_921+350insACACGGAACACTTCC
NM_001374692.1:c.921+349_921+350insACACGGAACACTTCC	NP_001361621.1:n.921+349_921+350insACACGGAACACTTCC
NM_001374693.1:c.921+349_921+350insACACGGAACACTTCC	NP_001361622.1:n.921+349_921+350insACACGGAACACTTCC
NM_001374695.1:c.882+349_882+350insACACGGAACACTTCC	NP_001361624.1:n.882+349_882+350insACACGGAACACTTCC
NM_007171.4:c.1338+349_1338+350insACACGGAACACTTCC	NP_009102.4:n.1338+349_1338+350insACACGGAACACTTCC
NR_148391.2:n.1306+349_1306+350insACACGGAACACTTCC
NR_148392.2:n.1524+349_1524+350insACACGGAACACTTCC
NR_148393.2:n.1306+349_1306+350insACACGGAACACTTCC
NR_148394.2:n.1199+349_1199+350insACACGGAACACTTCC
NR_148395.2:n.1458+349_1458+350insACACGGAACACTTCC
NR_148396.2:n.1092+349_1092+350insACACGGAACACTTCC
NR_148397.2:n.1356+349_1356+350insACACGGAACACTTCC
NR_148398.2:n.1311+349_1311+350insACACGGAACACTTCC
NR_148399.2:n.1698+349_1698+350insACACGGAACACTTCC
NR_148400.2:n.1297+349_1297+350insACACGGAACACTTCC