Canonical Allele Identifier: CA1881757203

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515713_131515717delinsTCACA , CM000671.2:g.131515713_131515717delinsTCACA	GRCh38
NC_000009.11:g.134391100_134391104delinsTCACA , CM000671.1:g.134391100_134391104delinsTCACA	GRCh37
NC_000009.10:g.133380921_133380925delinsTCACA	NCBI36
NG_008896.1:g.17812_17816delinsTCACA
NG_008896.2:g.17812_17816delinsTCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+191_1110+195delinsTCACA	ENSP00000343034.7:n.1110+191_1110+195delinsTCACA
ENST00000404875.7:n.1812+191_1812+195delinsTCACA
ENST00000423007.6:c.1329+191_1329+195delinsTCACA	ENSP00000404119.2:n.1329+191_1329+195delinsTCACA
ENST00000677295.2:c.*1616+191_*1616+195delinsTCACA	ENSP00000504346.2:n.*1616+191_*1616+195delinsTCACA
ENST00000678264.2:c.*1455+191_*1455+195delinsTCACA	ENSP00000503157.2:n.*1455+191_*1455+195delinsTCACA
ENST00000682070.1:n.1737+191_1737+195delinsTCACA
ENST00000682539.1:c.97+191_97+195delinsTCACA
ENST00000682813.1:n.1537+191_1537+195delinsTCACA
ENST00000683392.1:n.4019+191_4019+195delinsTCACA
ENST00000683712.1:n.1677+191_1677+195delinsTCACA
ENST00000683900.1:n.3172+191_3172+195delinsTCACA
ENST00000684062.1:n.1938+191_1938+195delinsTCACA
ENST00000684579.1:n.3118+191_3118+195delinsTCACA
ENST00000341012.12:c.1110+191_1110+195delinsTCACA	ENSP00000343034.7:n.1110+191_1110+195delinsTCACA
ENST00000372220.5:c.141+191_141+195delinsTCACA	ENSP00000361294.5:n.141+191_141+195delinsTCACA
ENST00000372228.9:c.1338+191_1338+195delinsTCACA	ENSP00000361302.3:n.1338+191_1338+195delinsTCACA
ENST00000402686.8:c.1272+191_1272+195delinsTCACA MANE Select	ENSP00000385797.4:n.1272+191_1272+195delinsTCACA
ENST00000676640.1:c.1272+191_1272+195delinsTCACA	ENSP00000503281.1:n.1272+191_1272+195delinsTCACA
ENST00000676803.1:c.447+191_447+195delinsTCACA	ENSP00000503093.1:n.447+191_447+195delinsTCACA
ENST00000676835.1:c.*487+191_*487+195delinsTCACA	ENSP00000502911.1:n.*487+191_*487+195delinsTCACA
ENST00000677029.1:c.816+191_816+195delinsTCACA	ENSP00000502936.1:n.816+191_816+195delinsTCACA
ENST00000677099.1:c.*982+191_*982+195delinsTCACA	ENSP00000504553.1:n.*982+191_*982+195delinsTCACA
ENST00000677216.1:c.921+191_921+195delinsTCACA	ENSP00000503772.1:n.921+191_921+195delinsTCACA
ENST00000677295.1:c.*649+191_*649+195delinsTCACA	ENSP00000504346.1:n.*649+191_*649+195delinsTCACA
ENST00000677444.1:c.1078+191_1078+195delinsTCACA
ENST00000677586.1:n.753+191_753+195delinsTCACA
ENST00000677626.1:c.921+191_921+195delinsTCACA	ENSP00000503552.1:n.921+191_921+195delinsTCACA
ENST00000677677.1:n.1232+191_1232+195delinsTCACA
ENST00000677853.1:c.*280+191_*280+195delinsTCACA	ENSP00000503488.1:n.*280+191_*280+195delinsTCACA
ENST00000677944.1:c.534+191_534+195delinsTCACA
ENST00000678264.1:c.*649+191_*649+195delinsTCACA	ENSP00000503157.1:n.*649+191_*649+195delinsTCACA
ENST00000678303.1:c.1182+191_1182+195delinsTCACA	ENSP00000503696.1:n.1182+191_1182+195delinsTCACA
ENST00000678366.1:c.*1521+191_*1521+195delinsTCACA	ENSP00000504353.1:n.*1521+191_*1521+195delinsTCACA
ENST00000678546.1:c.*1217+191_*1217+195delinsTCACA	ENSP00000503062.1:n.*1217+191_*1217+195delinsTCACA
ENST00000678548.1:c.*1344+191_*1344+195delinsTCACA	ENSP00000503934.1:n.*1344+191_*1344+195delinsTCACA
ENST00000678626.1:n.969+191_969+195delinsTCACA
ENST00000678733.1:c.353+191_353+195delinsTCACA
ENST00000678739.1:c.*1598+191_*1598+195delinsTCACA	ENSP00000503806.1:n.*1598+191_*1598+195delinsTCACA
ENST00000678795.1:n.359+191_359+195delinsTCACA
ENST00000678833.1:c.*719+191_*719+195delinsTCACA	ENSP00000503893.1:n.*719+191_*719+195delinsTCACA
ENST00000678942.1:c.452+191_452+195delinsTCACA	ENSP00000504690.1:n.452+191_452+195delinsTCACA
ENST00000679023.1:c.1110+191_1110+195delinsTCACA	ENSP00000503718.1:n.1110+191_1110+195delinsTCACA
ENST00000679076.1:c.891+191_891+195delinsTCACA
ENST00000679111.1:c.1272+191_1272+195delinsTCACA	ENSP00000504257.1:n.1272+191_1272+195delinsTCACA
ENST00000679189.1:c.921+191_921+195delinsTCACA	ENSP00000503356.1:n.921+191_921+195delinsTCACA
ENST00000341012.11:c.1110+191_1110+195delinsTCACA	ENSP00000343034.7:n.1110+191_1110+195delinsTCACA
ENST00000372228.7:c.1338+191_1338+195delinsTCACA	ENSP00000361302.3:n.1338+191_1338+195delinsTCACA
ENST00000402686.7:c.1272+191_1272+195delinsTCACA	ENSP00000385797.3:n.1272+191_1272+195delinsTCACA
ENST00000404875.6:c.921+191_921+195delinsTCACA	ENSP00000384531.2:n.921+191_921+195delinsTCACA
ENST00000423007.5:c.1272+191_1272+195delinsTCACA	ENSP00000404119.1:n.1272+191_1272+195delinsTCACA
ENST00000485278.5:n.1827+191_1827+195delinsTCACA
NM_001077365.1:c.1272+191_1272+195delinsTCACA	NP_001070833.1:n.1272+191_1272+195delinsTCACA
NM_001077366.1:c.1110+191_1110+195delinsTCACA	NP_001070834.1:n.1110+191_1110+195delinsTCACA
NM_001136113.1:c.1272+191_1272+195delinsTCACA	NP_001129585.1:n.1272+191_1272+195delinsTCACA
NM_001136114.1:c.921+191_921+195delinsTCACA	NP_001129586.1:n.921+191_921+195delinsTCACA
NM_007171.3:c.1338+191_1338+195delinsTCACA	NP_009102.3:n.1338+191_1338+195delinsTCACA
XM_005272156.1:c.1338+191_1338+195delinsTCACA	XP_005272213.1:n.1338+191_1338+195delinsTCACA
XM_005272158.1:c.1176+191_1176+195delinsTCACA	XP_005272215.1:n.1176+191_1176+195delinsTCACA
XM_005272159.1:c.987+191_987+195delinsTCACA	XP_005272216.1:n.987+191_987+195delinsTCACA
XM_005272162.1:c.141+191_141+195delinsTCACA	XP_005272219.1:n.141+191_141+195delinsTCACA
XM_006716932.1:c.987+191_987+195delinsTCACA	XP_006716995.1:n.987+191_987+195delinsTCACA
XM_011518140.1:c.1191+191_1191+195delinsTCACA	XP_011516442.1:n.1191+191_1191+195delinsTCACA
XM_011518141.1:c.1125+191_1125+195delinsTCACA	XP_011516443.1:n.1125+191_1125+195delinsTCACA
XM_011518142.1:c.1029+191_1029+195delinsTCACA	XP_011516444.1:n.1029+191_1029+195delinsTCACA
XM_011518143.1:c.1023+191_1023+195delinsTCACA	XP_011516445.1:n.1023+191_1023+195delinsTCACA
XM_011518144.1:c.1338+191_1338+195delinsTCACA	XP_011516446.1:n.1338+191_1338+195delinsTCACA
XM_011518145.1:c.882+191_882+195delinsTCACA	XP_011516447.1:n.882+191_882+195delinsTCACA
XM_011518146.1:c.1023+191_1023+195delinsTCACA	XP_011516448.1:n.1023+191_1023+195delinsTCACA
XR_929703.1:n.1514+191_1514+195delinsTCACA
NM_001353193.1:c.1338+191_1338+195delinsTCACA	NP_001340122.1:n.1338+191_1338+195delinsTCACA
NM_001353194.1:c.1110+191_1110+195delinsTCACA	NP_001340123.1:n.1110+191_1110+195delinsTCACA
NM_001353195.1:c.921+191_921+195delinsTCACA	NP_001340124.1:n.921+191_921+195delinsTCACA
NM_001353196.1:c.1182+191_1182+195delinsTCACA	NP_001340125.1:n.1182+191_1182+195delinsTCACA
NM_001353197.1:c.1176+191_1176+195delinsTCACA	NP_001340126.1:n.1176+191_1176+195delinsTCACA
NM_001353198.1:c.1176+191_1176+195delinsTCACA	NP_001340127.1:n.1176+191_1176+195delinsTCACA
NM_001353199.1:c.987+191_987+195delinsTCACA	NP_001340128.1:n.987+191_987+195delinsTCACA
NM_001353200.1:c.816+191_816+195delinsTCACA	NP_001340129.1:n.816+191_816+195delinsTCACA
NR_148391.1:n.1322+191_1322+195delinsTCACA
NR_148392.1:n.1540+191_1540+195delinsTCACA
NR_148393.1:n.1322+191_1322+195delinsTCACA
NR_148394.1:n.1215+191_1215+195delinsTCACA
NR_148395.1:n.1474+191_1474+195delinsTCACA
NR_148396.1:n.1108+191_1108+195delinsTCACA
NR_148397.1:n.1372+191_1372+195delinsTCACA
NR_148398.1:n.1327+191_1327+195delinsTCACA
NR_148399.1:n.1714+191_1714+195delinsTCACA
NR_148400.1:n.1313+191_1313+195delinsTCACA
XM_005272162.3:c.141+191_141+195delinsTCACA	XP_005272219.1:n.141+191_141+195delinsTCACA
XM_006716932.2:c.987+191_987+195delinsTCACA	XP_006716995.1:n.987+191_987+195delinsTCACA
XM_011518140.2:c.1191+191_1191+195delinsTCACA	XP_011516442.1:n.1191+191_1191+195delinsTCACA
XM_011518141.2:c.1125+191_1125+195delinsTCACA	XP_011516443.1:n.1125+191_1125+195delinsTCACA
XM_011518142.2:c.1029+191_1029+195delinsTCACA	XP_011516444.1:n.1029+191_1029+195delinsTCACA
XM_011518143.2:c.1023+191_1023+195delinsTCACA	XP_011516445.1:n.1023+191_1023+195delinsTCACA
XM_011518145.2:c.882+191_882+195delinsTCACA	XP_011516447.1:n.882+191_882+195delinsTCACA
XM_017014205.2:c.141+191_141+195delinsTCACA	XP_016869694.1:n.141+191_141+195delinsTCACA
XM_024447380.1:c.141+191_141+195delinsTCACA	XP_024303148.1:n.141+191_141+195delinsTCACA
XM_024447381.1:c.447+191_447+195delinsTCACA	XP_024303149.1:n.447+191_447+195delinsTCACA
XM_024447382.1:c.141+191_141+195delinsTCACA	XP_024303150.1:n.141+191_141+195delinsTCACA
XR_001746160.2:n.1442+191_1442+195delinsTCACA
XR_001746162.2:n.1508+191_1508+195delinsTCACA
XR_001746164.1:n.1225+191_1225+195delinsTCACA
XR_001746166.2:n.1659+191_1659+195delinsTCACA
NM_001077365.2:c.1272+191_1272+195delinsTCACA MANE Select	NP_001070833.1:n.1272+191_1272+195delinsTCACA
NM_001077366.2:c.1110+191_1110+195delinsTCACA	NP_001070834.1:n.1110+191_1110+195delinsTCACA
NM_001136113.2:c.1272+191_1272+195delinsTCACA	NP_001129585.1:n.1272+191_1272+195delinsTCACA
NM_001136114.2:c.921+191_921+195delinsTCACA	NP_001129586.1:n.921+191_921+195delinsTCACA
NM_001353193.2:c.1338+191_1338+195delinsTCACA	NP_001340122.2:n.1338+191_1338+195delinsTCACA
NM_001353194.2:c.1110+191_1110+195delinsTCACA	NP_001340123.1:n.1110+191_1110+195delinsTCACA
NM_001353195.2:c.921+191_921+195delinsTCACA	NP_001340124.1:n.921+191_921+195delinsTCACA
NM_001353196.2:c.1182+191_1182+195delinsTCACA	NP_001340125.1:n.1182+191_1182+195delinsTCACA
NM_001353197.2:c.1176+191_1176+195delinsTCACA	NP_001340126.2:n.1176+191_1176+195delinsTCACA
NM_001353198.2:c.1176+191_1176+195delinsTCACA	NP_001340127.2:n.1176+191_1176+195delinsTCACA
NM_001353199.2:c.987+191_987+195delinsTCACA	NP_001340128.2:n.987+191_987+195delinsTCACA
NM_001353200.2:c.816+191_816+195delinsTCACA	NP_001340129.1:n.816+191_816+195delinsTCACA
NM_001374689.1:c.1260+191_1260+195delinsTCACA	NP_001361618.1:n.1260+191_1260+195delinsTCACA
NM_001374690.1:c.1272+191_1272+195delinsTCACA	NP_001361619.1:n.1272+191_1272+195delinsTCACA
NM_001374691.1:c.921+191_921+195delinsTCACA	NP_001361620.1:n.921+191_921+195delinsTCACA
NM_001374692.1:c.921+191_921+195delinsTCACA	NP_001361621.1:n.921+191_921+195delinsTCACA
NM_001374693.1:c.921+191_921+195delinsTCACA	NP_001361622.1:n.921+191_921+195delinsTCACA
NM_001374695.1:c.882+191_882+195delinsTCACA	NP_001361624.1:n.882+191_882+195delinsTCACA
NM_007171.4:c.1338+191_1338+195delinsTCACA	NP_009102.4:n.1338+191_1338+195delinsTCACA
NR_148391.2:n.1306+191_1306+195delinsTCACA
NR_148392.2:n.1524+191_1524+195delinsTCACA
NR_148393.2:n.1306+191_1306+195delinsTCACA
NR_148394.2:n.1199+191_1199+195delinsTCACA
NR_148395.2:n.1458+191_1458+195delinsTCACA
NR_148396.2:n.1092+191_1092+195delinsTCACA
NR_148397.2:n.1356+191_1356+195delinsTCACA
NR_148398.2:n.1311+191_1311+195delinsTCACA
NR_148399.2:n.1698+191_1698+195delinsTCACA
NR_148400.2:n.1297+191_1297+195delinsTCACA