Canonical Allele Identifier: CA1881757899

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515894_131515896delinsCAT , CM000671.2:g.131515894_131515896delinsCAT	GRCh38
NC_000009.11:g.134391281_134391283delinsCAT , CM000671.1:g.134391281_134391283delinsCAT	GRCh37
NC_000009.10:g.133381102_133381104delinsCAT	NCBI36
NG_008896.1:g.17993_17995delinsCAT
NG_008896.2:g.17993_17995delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+372_1110+374delinsCAT	ENSP00000343034.7:n.1110+372_1110+374delinsCAT
ENST00000404875.7:n.1812+372_1812+374delinsCAT
ENST00000423007.6:c.1329+372_1329+374delinsCAT	ENSP00000404119.2:n.1329+372_1329+374delinsCAT
ENST00000677295.2:c.*1616+372_*1616+374delinsCAT	ENSP00000504346.2:n.*1616+372_*1616+374delinsCAT
ENST00000678264.2:c.*1455+372_*1455+374delinsCAT	ENSP00000503157.2:n.*1455+372_*1455+374delinsCAT
ENST00000682070.1:n.1737+372_1737+374delinsCAT
ENST00000682539.1:c.97+372_97+374delinsCAT
ENST00000682813.1:n.1537+372_1537+374delinsCAT
ENST00000683392.1:n.4019+372_4019+374delinsCAT
ENST00000683712.1:n.1677+372_1677+374delinsCAT
ENST00000683900.1:n.3172+372_3172+374delinsCAT
ENST00000684062.1:n.1938+372_1938+374delinsCAT
ENST00000684579.1:n.3118+372_3118+374delinsCAT
ENST00000341012.12:c.1110+372_1110+374delinsCAT	ENSP00000343034.7:n.1110+372_1110+374delinsCAT
ENST00000372220.5:c.141+372_141+374delinsCAT	ENSP00000361294.5:n.141+372_141+374delinsCAT
ENST00000372228.9:c.1338+372_1338+374delinsCAT	ENSP00000361302.3:n.1338+372_1338+374delinsCAT
ENST00000402686.8:c.1272+372_1272+374delinsCAT MANE Select	ENSP00000385797.4:n.1272+372_1272+374delinsCAT
ENST00000676640.1:c.1272+372_1272+374delinsCAT	ENSP00000503281.1:n.1272+372_1272+374delinsCAT
ENST00000676803.1:c.447+372_447+374delinsCAT	ENSP00000503093.1:n.447+372_447+374delinsCAT
ENST00000676835.1:c.*487+372_*487+374delinsCAT	ENSP00000502911.1:n.*487+372_*487+374delinsCAT
ENST00000677029.1:c.816+372_816+374delinsCAT	ENSP00000502936.1:n.816+372_816+374delinsCAT
ENST00000677099.1:c.*982+372_*982+374delinsCAT	ENSP00000504553.1:n.*982+372_*982+374delinsCAT
ENST00000677216.1:c.921+372_921+374delinsCAT	ENSP00000503772.1:n.921+372_921+374delinsCAT
ENST00000677295.1:c.*649+372_*649+374delinsCAT	ENSP00000504346.1:n.*649+372_*649+374delinsCAT
ENST00000677444.1:c.1078+372_1078+374delinsCAT
ENST00000677586.1:n.753+372_753+374delinsCAT
ENST00000677626.1:c.921+372_921+374delinsCAT	ENSP00000503552.1:n.921+372_921+374delinsCAT
ENST00000677677.1:n.1232+372_1232+374delinsCAT
ENST00000677853.1:c.*280+372_*280+374delinsCAT	ENSP00000503488.1:n.*280+372_*280+374delinsCAT
ENST00000677944.1:c.534+372_534+374delinsCAT
ENST00000678264.1:c.*649+372_*649+374delinsCAT	ENSP00000503157.1:n.*649+372_*649+374delinsCAT
ENST00000678303.1:c.1182+372_1182+374delinsCAT	ENSP00000503696.1:n.1182+372_1182+374delinsCAT
ENST00000678366.1:c.*1521+372_*1521+374delinsCAT	ENSP00000504353.1:n.*1521+372_*1521+374delinsCAT
ENST00000678546.1:c.*1217+372_*1217+374delinsCAT	ENSP00000503062.1:n.*1217+372_*1217+374delinsCAT
ENST00000678548.1:c.*1344+372_*1344+374delinsCAT	ENSP00000503934.1:n.*1344+372_*1344+374delinsCAT
ENST00000678626.1:n.969+372_969+374delinsCAT
ENST00000678733.1:c.353+372_353+374delinsCAT
ENST00000678739.1:c.*1598+372_*1598+374delinsCAT	ENSP00000503806.1:n.*1598+372_*1598+374delinsCAT
ENST00000678795.1:n.359+372_359+374delinsCAT
ENST00000678833.1:c.*719+372_*719+374delinsCAT	ENSP00000503893.1:n.*719+372_*719+374delinsCAT
ENST00000678942.1:c.452+372_452+374delinsCAT	ENSP00000504690.1:n.452+372_452+374delinsCAT
ENST00000679023.1:c.1110+372_1110+374delinsCAT	ENSP00000503718.1:n.1110+372_1110+374delinsCAT
ENST00000679076.1:c.891+372_891+374delinsCAT
ENST00000679111.1:c.1272+372_1272+374delinsCAT	ENSP00000504257.1:n.1272+372_1272+374delinsCAT
ENST00000679189.1:c.921+372_921+374delinsCAT	ENSP00000503356.1:n.921+372_921+374delinsCAT
ENST00000341012.11:c.1110+372_1110+374delinsCAT	ENSP00000343034.7:n.1110+372_1110+374delinsCAT
ENST00000372228.7:c.1338+372_1338+374delinsCAT	ENSP00000361302.3:n.1338+372_1338+374delinsCAT
ENST00000402686.7:c.1272+372_1272+374delinsCAT	ENSP00000385797.3:n.1272+372_1272+374delinsCAT
ENST00000404875.6:c.921+372_921+374delinsCAT	ENSP00000384531.2:n.921+372_921+374delinsCAT
ENST00000423007.5:c.1272+372_1272+374delinsCAT	ENSP00000404119.1:n.1272+372_1272+374delinsCAT
ENST00000485278.5:n.1827+372_1827+374delinsCAT
NM_001077365.1:c.1272+372_1272+374delinsCAT	NP_001070833.1:n.1272+372_1272+374delinsCAT
NM_001077366.1:c.1110+372_1110+374delinsCAT	NP_001070834.1:n.1110+372_1110+374delinsCAT
NM_001136113.1:c.1272+372_1272+374delinsCAT	NP_001129585.1:n.1272+372_1272+374delinsCAT
NM_001136114.1:c.921+372_921+374delinsCAT	NP_001129586.1:n.921+372_921+374delinsCAT
NM_007171.3:c.1338+372_1338+374delinsCAT	NP_009102.3:n.1338+372_1338+374delinsCAT
XM_005272156.1:c.1338+372_1338+374delinsCAT	XP_005272213.1:n.1338+372_1338+374delinsCAT
XM_005272158.1:c.1176+372_1176+374delinsCAT	XP_005272215.1:n.1176+372_1176+374delinsCAT
XM_005272159.1:c.987+372_987+374delinsCAT	XP_005272216.1:n.987+372_987+374delinsCAT
XM_005272162.1:c.141+372_141+374delinsCAT	XP_005272219.1:n.141+372_141+374delinsCAT
XM_006716932.1:c.987+372_987+374delinsCAT	XP_006716995.1:n.987+372_987+374delinsCAT
XM_011518140.1:c.1191+372_1191+374delinsCAT	XP_011516442.1:n.1191+372_1191+374delinsCAT
XM_011518141.1:c.1125+372_1125+374delinsCAT	XP_011516443.1:n.1125+372_1125+374delinsCAT
XM_011518142.1:c.1029+372_1029+374delinsCAT	XP_011516444.1:n.1029+372_1029+374delinsCAT
XM_011518143.1:c.1023+372_1023+374delinsCAT	XP_011516445.1:n.1023+372_1023+374delinsCAT
XM_011518144.1:c.1338+372_1338+374delinsCAT	XP_011516446.1:n.1338+372_1338+374delinsCAT
XM_011518145.1:c.882+372_882+374delinsCAT	XP_011516447.1:n.882+372_882+374delinsCAT
XM_011518146.1:c.1023+372_1023+374delinsCAT	XP_011516448.1:n.1023+372_1023+374delinsCAT
XR_929703.1:n.1514+372_1514+374delinsCAT
NM_001353193.1:c.1338+372_1338+374delinsCAT	NP_001340122.1:n.1338+372_1338+374delinsCAT
NM_001353194.1:c.1110+372_1110+374delinsCAT	NP_001340123.1:n.1110+372_1110+374delinsCAT
NM_001353195.1:c.921+372_921+374delinsCAT	NP_001340124.1:n.921+372_921+374delinsCAT
NM_001353196.1:c.1182+372_1182+374delinsCAT	NP_001340125.1:n.1182+372_1182+374delinsCAT
NM_001353197.1:c.1176+372_1176+374delinsCAT	NP_001340126.1:n.1176+372_1176+374delinsCAT
NM_001353198.1:c.1176+372_1176+374delinsCAT	NP_001340127.1:n.1176+372_1176+374delinsCAT
NM_001353199.1:c.987+372_987+374delinsCAT	NP_001340128.1:n.987+372_987+374delinsCAT
NM_001353200.1:c.816+372_816+374delinsCAT	NP_001340129.1:n.816+372_816+374delinsCAT
NR_148391.1:n.1322+372_1322+374delinsCAT
NR_148392.1:n.1540+372_1540+374delinsCAT
NR_148393.1:n.1322+372_1322+374delinsCAT
NR_148394.1:n.1215+372_1215+374delinsCAT
NR_148395.1:n.1474+372_1474+374delinsCAT
NR_148396.1:n.1108+372_1108+374delinsCAT
NR_148397.1:n.1372+372_1372+374delinsCAT
NR_148398.1:n.1327+372_1327+374delinsCAT
NR_148399.1:n.1714+372_1714+374delinsCAT
NR_148400.1:n.1313+372_1313+374delinsCAT
XM_005272162.3:c.141+372_141+374delinsCAT	XP_005272219.1:n.141+372_141+374delinsCAT
XM_006716932.2:c.987+372_987+374delinsCAT	XP_006716995.1:n.987+372_987+374delinsCAT
XM_011518140.2:c.1191+372_1191+374delinsCAT	XP_011516442.1:n.1191+372_1191+374delinsCAT
XM_011518141.2:c.1125+372_1125+374delinsCAT	XP_011516443.1:n.1125+372_1125+374delinsCAT
XM_011518142.2:c.1029+372_1029+374delinsCAT	XP_011516444.1:n.1029+372_1029+374delinsCAT
XM_011518143.2:c.1023+372_1023+374delinsCAT	XP_011516445.1:n.1023+372_1023+374delinsCAT
XM_011518145.2:c.882+372_882+374delinsCAT	XP_011516447.1:n.882+372_882+374delinsCAT
XM_017014205.2:c.141+372_141+374delinsCAT	XP_016869694.1:n.141+372_141+374delinsCAT
XM_024447380.1:c.141+372_141+374delinsCAT	XP_024303148.1:n.141+372_141+374delinsCAT
XM_024447381.1:c.447+372_447+374delinsCAT	XP_024303149.1:n.447+372_447+374delinsCAT
XM_024447382.1:c.141+372_141+374delinsCAT	XP_024303150.1:n.141+372_141+374delinsCAT
XR_001746160.2:n.1442+372_1442+374delinsCAT
XR_001746162.2:n.1508+372_1508+374delinsCAT
XR_001746164.1:n.1225+372_1225+374delinsCAT
XR_001746166.2:n.1659+372_1659+374delinsCAT
NM_001077365.2:c.1272+372_1272+374delinsCAT MANE Select	NP_001070833.1:n.1272+372_1272+374delinsCAT
NM_001077366.2:c.1110+372_1110+374delinsCAT	NP_001070834.1:n.1110+372_1110+374delinsCAT
NM_001136113.2:c.1272+372_1272+374delinsCAT	NP_001129585.1:n.1272+372_1272+374delinsCAT
NM_001136114.2:c.921+372_921+374delinsCAT	NP_001129586.1:n.921+372_921+374delinsCAT
NM_001353193.2:c.1338+372_1338+374delinsCAT	NP_001340122.2:n.1338+372_1338+374delinsCAT
NM_001353194.2:c.1110+372_1110+374delinsCAT	NP_001340123.1:n.1110+372_1110+374delinsCAT
NM_001353195.2:c.921+372_921+374delinsCAT	NP_001340124.1:n.921+372_921+374delinsCAT
NM_001353196.2:c.1182+372_1182+374delinsCAT	NP_001340125.1:n.1182+372_1182+374delinsCAT
NM_001353197.2:c.1176+372_1176+374delinsCAT	NP_001340126.2:n.1176+372_1176+374delinsCAT
NM_001353198.2:c.1176+372_1176+374delinsCAT	NP_001340127.2:n.1176+372_1176+374delinsCAT
NM_001353199.2:c.987+372_987+374delinsCAT	NP_001340128.2:n.987+372_987+374delinsCAT
NM_001353200.2:c.816+372_816+374delinsCAT	NP_001340129.1:n.816+372_816+374delinsCAT
NM_001374689.1:c.1260+372_1260+374delinsCAT	NP_001361618.1:n.1260+372_1260+374delinsCAT
NM_001374690.1:c.1272+372_1272+374delinsCAT	NP_001361619.1:n.1272+372_1272+374delinsCAT
NM_001374691.1:c.921+372_921+374delinsCAT	NP_001361620.1:n.921+372_921+374delinsCAT
NM_001374692.1:c.921+372_921+374delinsCAT	NP_001361621.1:n.921+372_921+374delinsCAT
NM_001374693.1:c.921+372_921+374delinsCAT	NP_001361622.1:n.921+372_921+374delinsCAT
NM_001374695.1:c.882+372_882+374delinsCAT	NP_001361624.1:n.882+372_882+374delinsCAT
NM_007171.4:c.1338+372_1338+374delinsCAT	NP_009102.4:n.1338+372_1338+374delinsCAT
NR_148391.2:n.1306+372_1306+374delinsCAT
NR_148392.2:n.1524+372_1524+374delinsCAT
NR_148393.2:n.1306+372_1306+374delinsCAT
NR_148394.2:n.1199+372_1199+374delinsCAT
NR_148395.2:n.1458+372_1458+374delinsCAT
NR_148396.2:n.1092+372_1092+374delinsCAT
NR_148397.2:n.1356+372_1356+374delinsCAT
NR_148398.2:n.1311+372_1311+374delinsCAT
NR_148399.2:n.1698+372_1698+374delinsCAT
NR_148400.2:n.1297+372_1297+374delinsCAT