Canonical Allele Identifier: CA1881757327

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515735_131515738delinsCAGG , CM000671.2:g.131515735_131515738delinsCAGG	GRCh38
NC_000009.11:g.134391122_134391125delinsCAGG , CM000671.1:g.134391122_134391125delinsCAGG	GRCh37
NC_000009.10:g.133380943_133380946delinsCAGG	NCBI36
NG_008896.1:g.17834_17837delinsCAGG
NG_008896.2:g.17834_17837delinsCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+213_1110+216delinsCAGG	ENSP00000343034.7:n.1110+213_1110+216delinsCAGG
ENST00000404875.7:n.1812+213_1812+216delinsCAGG
ENST00000423007.6:c.1329+213_1329+216delinsCAGG	ENSP00000404119.2:n.1329+213_1329+216delinsCAGG
ENST00000677295.2:c.*1616+213_*1616+216delinsCAGG	ENSP00000504346.2:n.*1616+213_*1616+216delinsCAGG
ENST00000678264.2:c.*1455+213_*1455+216delinsCAGG	ENSP00000503157.2:n.*1455+213_*1455+216delinsCAGG
ENST00000682070.1:n.1737+213_1737+216delinsCAGG
ENST00000682539.1:c.97+213_97+216delinsCAGG
ENST00000682813.1:n.1537+213_1537+216delinsCAGG
ENST00000683392.1:n.4019+213_4019+216delinsCAGG
ENST00000683712.1:n.1677+213_1677+216delinsCAGG
ENST00000683900.1:n.3172+213_3172+216delinsCAGG
ENST00000684062.1:n.1938+213_1938+216delinsCAGG
ENST00000684579.1:n.3118+213_3118+216delinsCAGG
ENST00000341012.12:c.1110+213_1110+216delinsCAGG	ENSP00000343034.7:n.1110+213_1110+216delinsCAGG
ENST00000372220.5:c.141+213_141+216delinsCAGG	ENSP00000361294.5:n.141+213_141+216delinsCAGG
ENST00000372228.9:c.1338+213_1338+216delinsCAGG	ENSP00000361302.3:n.1338+213_1338+216delinsCAGG
ENST00000402686.8:c.1272+213_1272+216delinsCAGG MANE Select	ENSP00000385797.4:n.1272+213_1272+216delinsCAGG
ENST00000676640.1:c.1272+213_1272+216delinsCAGG	ENSP00000503281.1:n.1272+213_1272+216delinsCAGG
ENST00000676803.1:c.447+213_447+216delinsCAGG	ENSP00000503093.1:n.447+213_447+216delinsCAGG
ENST00000676835.1:c.*487+213_*487+216delinsCAGG	ENSP00000502911.1:n.*487+213_*487+216delinsCAGG
ENST00000677029.1:c.816+213_816+216delinsCAGG	ENSP00000502936.1:n.816+213_816+216delinsCAGG
ENST00000677099.1:c.*982+213_*982+216delinsCAGG	ENSP00000504553.1:n.*982+213_*982+216delinsCAGG
ENST00000677216.1:c.921+213_921+216delinsCAGG	ENSP00000503772.1:n.921+213_921+216delinsCAGG
ENST00000677295.1:c.*649+213_*649+216delinsCAGG	ENSP00000504346.1:n.*649+213_*649+216delinsCAGG
ENST00000677444.1:c.1078+213_1078+216delinsCAGG
ENST00000677586.1:n.753+213_753+216delinsCAGG
ENST00000677626.1:c.921+213_921+216delinsCAGG	ENSP00000503552.1:n.921+213_921+216delinsCAGG
ENST00000677677.1:n.1232+213_1232+216delinsCAGG
ENST00000677853.1:c.*280+213_*280+216delinsCAGG	ENSP00000503488.1:n.*280+213_*280+216delinsCAGG
ENST00000677944.1:c.534+213_534+216delinsCAGG
ENST00000678264.1:c.*649+213_*649+216delinsCAGG	ENSP00000503157.1:n.*649+213_*649+216delinsCAGG
ENST00000678303.1:c.1182+213_1182+216delinsCAGG	ENSP00000503696.1:n.1182+213_1182+216delinsCAGG
ENST00000678366.1:c.*1521+213_*1521+216delinsCAGG	ENSP00000504353.1:n.*1521+213_*1521+216delinsCAGG
ENST00000678546.1:c.*1217+213_*1217+216delinsCAGG	ENSP00000503062.1:n.*1217+213_*1217+216delinsCAGG
ENST00000678548.1:c.*1344+213_*1344+216delinsCAGG	ENSP00000503934.1:n.*1344+213_*1344+216delinsCAGG
ENST00000678626.1:n.969+213_969+216delinsCAGG
ENST00000678733.1:c.353+213_353+216delinsCAGG
ENST00000678739.1:c.*1598+213_*1598+216delinsCAGG	ENSP00000503806.1:n.*1598+213_*1598+216delinsCAGG
ENST00000678795.1:n.359+213_359+216delinsCAGG
ENST00000678833.1:c.*719+213_*719+216delinsCAGG	ENSP00000503893.1:n.*719+213_*719+216delinsCAGG
ENST00000678942.1:c.452+213_452+216delinsCAGG	ENSP00000504690.1:n.452+213_452+216delinsCAGG
ENST00000679023.1:c.1110+213_1110+216delinsCAGG	ENSP00000503718.1:n.1110+213_1110+216delinsCAGG
ENST00000679076.1:c.891+213_891+216delinsCAGG
ENST00000679111.1:c.1272+213_1272+216delinsCAGG	ENSP00000504257.1:n.1272+213_1272+216delinsCAGG
ENST00000679189.1:c.921+213_921+216delinsCAGG	ENSP00000503356.1:n.921+213_921+216delinsCAGG
ENST00000341012.11:c.1110+213_1110+216delinsCAGG	ENSP00000343034.7:n.1110+213_1110+216delinsCAGG
ENST00000372228.7:c.1338+213_1338+216delinsCAGG	ENSP00000361302.3:n.1338+213_1338+216delinsCAGG
ENST00000402686.7:c.1272+213_1272+216delinsCAGG	ENSP00000385797.3:n.1272+213_1272+216delinsCAGG
ENST00000404875.6:c.921+213_921+216delinsCAGG	ENSP00000384531.2:n.921+213_921+216delinsCAGG
ENST00000423007.5:c.1272+213_1272+216delinsCAGG	ENSP00000404119.1:n.1272+213_1272+216delinsCAGG
ENST00000485278.5:n.1827+213_1827+216delinsCAGG
NM_001077365.1:c.1272+213_1272+216delinsCAGG	NP_001070833.1:n.1272+213_1272+216delinsCAGG
NM_001077366.1:c.1110+213_1110+216delinsCAGG	NP_001070834.1:n.1110+213_1110+216delinsCAGG
NM_001136113.1:c.1272+213_1272+216delinsCAGG	NP_001129585.1:n.1272+213_1272+216delinsCAGG
NM_001136114.1:c.921+213_921+216delinsCAGG	NP_001129586.1:n.921+213_921+216delinsCAGG
NM_007171.3:c.1338+213_1338+216delinsCAGG	NP_009102.3:n.1338+213_1338+216delinsCAGG
XM_005272156.1:c.1338+213_1338+216delinsCAGG	XP_005272213.1:n.1338+213_1338+216delinsCAGG
XM_005272158.1:c.1176+213_1176+216delinsCAGG	XP_005272215.1:n.1176+213_1176+216delinsCAGG
XM_005272159.1:c.987+213_987+216delinsCAGG	XP_005272216.1:n.987+213_987+216delinsCAGG
XM_005272162.1:c.141+213_141+216delinsCAGG	XP_005272219.1:n.141+213_141+216delinsCAGG
XM_006716932.1:c.987+213_987+216delinsCAGG	XP_006716995.1:n.987+213_987+216delinsCAGG
XM_011518140.1:c.1191+213_1191+216delinsCAGG	XP_011516442.1:n.1191+213_1191+216delinsCAGG
XM_011518141.1:c.1125+213_1125+216delinsCAGG	XP_011516443.1:n.1125+213_1125+216delinsCAGG
XM_011518142.1:c.1029+213_1029+216delinsCAGG	XP_011516444.1:n.1029+213_1029+216delinsCAGG
XM_011518143.1:c.1023+213_1023+216delinsCAGG	XP_011516445.1:n.1023+213_1023+216delinsCAGG
XM_011518144.1:c.1338+213_1338+216delinsCAGG	XP_011516446.1:n.1338+213_1338+216delinsCAGG
XM_011518145.1:c.882+213_882+216delinsCAGG	XP_011516447.1:n.882+213_882+216delinsCAGG
XM_011518146.1:c.1023+213_1023+216delinsCAGG	XP_011516448.1:n.1023+213_1023+216delinsCAGG
XR_929703.1:n.1514+213_1514+216delinsCAGG
NM_001353193.1:c.1338+213_1338+216delinsCAGG	NP_001340122.1:n.1338+213_1338+216delinsCAGG
NM_001353194.1:c.1110+213_1110+216delinsCAGG	NP_001340123.1:n.1110+213_1110+216delinsCAGG
NM_001353195.1:c.921+213_921+216delinsCAGG	NP_001340124.1:n.921+213_921+216delinsCAGG
NM_001353196.1:c.1182+213_1182+216delinsCAGG	NP_001340125.1:n.1182+213_1182+216delinsCAGG
NM_001353197.1:c.1176+213_1176+216delinsCAGG	NP_001340126.1:n.1176+213_1176+216delinsCAGG
NM_001353198.1:c.1176+213_1176+216delinsCAGG	NP_001340127.1:n.1176+213_1176+216delinsCAGG
NM_001353199.1:c.987+213_987+216delinsCAGG	NP_001340128.1:n.987+213_987+216delinsCAGG
NM_001353200.1:c.816+213_816+216delinsCAGG	NP_001340129.1:n.816+213_816+216delinsCAGG
NR_148391.1:n.1322+213_1322+216delinsCAGG
NR_148392.1:n.1540+213_1540+216delinsCAGG
NR_148393.1:n.1322+213_1322+216delinsCAGG
NR_148394.1:n.1215+213_1215+216delinsCAGG
NR_148395.1:n.1474+213_1474+216delinsCAGG
NR_148396.1:n.1108+213_1108+216delinsCAGG
NR_148397.1:n.1372+213_1372+216delinsCAGG
NR_148398.1:n.1327+213_1327+216delinsCAGG
NR_148399.1:n.1714+213_1714+216delinsCAGG
NR_148400.1:n.1313+213_1313+216delinsCAGG
XM_005272162.3:c.141+213_141+216delinsCAGG	XP_005272219.1:n.141+213_141+216delinsCAGG
XM_006716932.2:c.987+213_987+216delinsCAGG	XP_006716995.1:n.987+213_987+216delinsCAGG
XM_011518140.2:c.1191+213_1191+216delinsCAGG	XP_011516442.1:n.1191+213_1191+216delinsCAGG
XM_011518141.2:c.1125+213_1125+216delinsCAGG	XP_011516443.1:n.1125+213_1125+216delinsCAGG
XM_011518142.2:c.1029+213_1029+216delinsCAGG	XP_011516444.1:n.1029+213_1029+216delinsCAGG
XM_011518143.2:c.1023+213_1023+216delinsCAGG	XP_011516445.1:n.1023+213_1023+216delinsCAGG
XM_011518145.2:c.882+213_882+216delinsCAGG	XP_011516447.1:n.882+213_882+216delinsCAGG
XM_017014205.2:c.141+213_141+216delinsCAGG	XP_016869694.1:n.141+213_141+216delinsCAGG
XM_024447380.1:c.141+213_141+216delinsCAGG	XP_024303148.1:n.141+213_141+216delinsCAGG
XM_024447381.1:c.447+213_447+216delinsCAGG	XP_024303149.1:n.447+213_447+216delinsCAGG
XM_024447382.1:c.141+213_141+216delinsCAGG	XP_024303150.1:n.141+213_141+216delinsCAGG
XR_001746160.2:n.1442+213_1442+216delinsCAGG
XR_001746162.2:n.1508+213_1508+216delinsCAGG
XR_001746164.1:n.1225+213_1225+216delinsCAGG
XR_001746166.2:n.1659+213_1659+216delinsCAGG
NM_001077365.2:c.1272+213_1272+216delinsCAGG MANE Select	NP_001070833.1:n.1272+213_1272+216delinsCAGG
NM_001077366.2:c.1110+213_1110+216delinsCAGG	NP_001070834.1:n.1110+213_1110+216delinsCAGG
NM_001136113.2:c.1272+213_1272+216delinsCAGG	NP_001129585.1:n.1272+213_1272+216delinsCAGG
NM_001136114.2:c.921+213_921+216delinsCAGG	NP_001129586.1:n.921+213_921+216delinsCAGG
NM_001353193.2:c.1338+213_1338+216delinsCAGG	NP_001340122.2:n.1338+213_1338+216delinsCAGG
NM_001353194.2:c.1110+213_1110+216delinsCAGG	NP_001340123.1:n.1110+213_1110+216delinsCAGG
NM_001353195.2:c.921+213_921+216delinsCAGG	NP_001340124.1:n.921+213_921+216delinsCAGG
NM_001353196.2:c.1182+213_1182+216delinsCAGG	NP_001340125.1:n.1182+213_1182+216delinsCAGG
NM_001353197.2:c.1176+213_1176+216delinsCAGG	NP_001340126.2:n.1176+213_1176+216delinsCAGG
NM_001353198.2:c.1176+213_1176+216delinsCAGG	NP_001340127.2:n.1176+213_1176+216delinsCAGG
NM_001353199.2:c.987+213_987+216delinsCAGG	NP_001340128.2:n.987+213_987+216delinsCAGG
NM_001353200.2:c.816+213_816+216delinsCAGG	NP_001340129.1:n.816+213_816+216delinsCAGG
NM_001374689.1:c.1260+213_1260+216delinsCAGG	NP_001361618.1:n.1260+213_1260+216delinsCAGG
NM_001374690.1:c.1272+213_1272+216delinsCAGG	NP_001361619.1:n.1272+213_1272+216delinsCAGG
NM_001374691.1:c.921+213_921+216delinsCAGG	NP_001361620.1:n.921+213_921+216delinsCAGG
NM_001374692.1:c.921+213_921+216delinsCAGG	NP_001361621.1:n.921+213_921+216delinsCAGG
NM_001374693.1:c.921+213_921+216delinsCAGG	NP_001361622.1:n.921+213_921+216delinsCAGG
NM_001374695.1:c.882+213_882+216delinsCAGG	NP_001361624.1:n.882+213_882+216delinsCAGG
NM_007171.4:c.1338+213_1338+216delinsCAGG	NP_009102.4:n.1338+213_1338+216delinsCAGG
NR_148391.2:n.1306+213_1306+216delinsCAGG
NR_148392.2:n.1524+213_1524+216delinsCAGG
NR_148393.2:n.1306+213_1306+216delinsCAGG
NR_148394.2:n.1199+213_1199+216delinsCAGG
NR_148395.2:n.1458+213_1458+216delinsCAGG
NR_148396.2:n.1092+213_1092+216delinsCAGG
NR_148397.2:n.1356+213_1356+216delinsCAGG
NR_148398.2:n.1311+213_1311+216delinsCAGG
NR_148399.2:n.1698+213_1698+216delinsCAGG
NR_148400.2:n.1297+213_1297+216delinsCAGG