Canonical Allele Identifier: CA2603393692

Gene: POMT1

Linked Data

• gnomAD v3: 9-131515677-TCTAA-T
• gnomAD v4: 9-131515677-TCTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515679_131515682del , CM000671.2:g.131515679_131515682del	GRCh38
NC_000009.11:g.134391066_134391069del , CM000671.1:g.134391066_134391069del	GRCh37
NC_000009.10:g.133380887_133380890del	NCBI36
NG_008896.1:g.17778_17781del
NG_008896.2:g.17778_17781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+157_1110+160del	ENSP00000343034.7:n.1110+157_1110+160del
ENST00000404875.7:n.1812+157_1812+160del
ENST00000423007.6:c.1329+157_1329+160del	ENSP00000404119.2:n.1329+157_1329+160del
ENST00000677295.2:c.*1616+157_*1616+160del	ENSP00000504346.2:n.*1616+157_*1616+160del
ENST00000678264.2:c.*1455+157_*1455+160del	ENSP00000503157.2:n.*1455+157_*1455+160del
ENST00000682070.1:n.1737+157_1737+160del
ENST00000682539.1:c.97+157_97+160del
ENST00000682813.1:n.1537+157_1537+160del
ENST00000683392.1:n.4019+157_4019+160del
ENST00000683712.1:n.1677+157_1677+160del
ENST00000683900.1:n.3172+157_3172+160del
ENST00000684062.1:n.1938+157_1938+160del
ENST00000684579.1:n.3118+157_3118+160del
ENST00000341012.12:c.1110+157_1110+160del	ENSP00000343034.7:n.1110+157_1110+160del
ENST00000372220.5:c.141+157_141+160del	ENSP00000361294.5:n.141+157_141+160del
ENST00000372228.9:c.1338+157_1338+160del	ENSP00000361302.3:n.1338+157_1338+160del
ENST00000402686.8:c.1272+157_1272+160del MANE Select	ENSP00000385797.4:n.1272+157_1272+160del
ENST00000676640.1:c.1272+157_1272+160del	ENSP00000503281.1:n.1272+157_1272+160del
ENST00000676803.1:c.447+157_447+160del	ENSP00000503093.1:n.447+157_447+160del
ENST00000676835.1:c.*487+157_*487+160del	ENSP00000502911.1:n.*487+157_*487+160del
ENST00000677029.1:c.816+157_816+160del	ENSP00000502936.1:n.816+157_816+160del
ENST00000677099.1:c.*982+157_*982+160del	ENSP00000504553.1:n.*982+157_*982+160del
ENST00000677216.1:c.921+157_921+160del	ENSP00000503772.1:n.921+157_921+160del
ENST00000677295.1:c.*649+157_*649+160del	ENSP00000504346.1:n.*649+157_*649+160del
ENST00000677444.1:c.1078+157_1078+160del
ENST00000677586.1:n.753+157_753+160del
ENST00000677626.1:c.921+157_921+160del	ENSP00000503552.1:n.921+157_921+160del
ENST00000677677.1:n.1232+157_1232+160del
ENST00000677853.1:c.*280+157_*280+160del	ENSP00000503488.1:n.*280+157_*280+160del
ENST00000677944.1:c.534+157_534+160del
ENST00000678264.1:c.*649+157_*649+160del	ENSP00000503157.1:n.*649+157_*649+160del
ENST00000678303.1:c.1182+157_1182+160del	ENSP00000503696.1:n.1182+157_1182+160del
ENST00000678366.1:c.*1521+157_*1521+160del	ENSP00000504353.1:n.*1521+157_*1521+160del
ENST00000678546.1:c.*1217+157_*1217+160del	ENSP00000503062.1:n.*1217+157_*1217+160del
ENST00000678548.1:c.*1344+157_*1344+160del	ENSP00000503934.1:n.*1344+157_*1344+160del
ENST00000678626.1:n.969+157_969+160del
ENST00000678733.1:c.353+157_353+160del
ENST00000678739.1:c.*1598+157_*1598+160del	ENSP00000503806.1:n.*1598+157_*1598+160del
ENST00000678795.1:n.359+157_359+160del
ENST00000678833.1:c.*719+157_*719+160del	ENSP00000503893.1:n.*719+157_*719+160del
ENST00000678942.1:c.452+157_452+160del	ENSP00000504690.1:n.452+157_452+160del
ENST00000679023.1:c.1110+157_1110+160del	ENSP00000503718.1:n.1110+157_1110+160del
ENST00000679076.1:c.891+157_891+160del
ENST00000679111.1:c.1272+157_1272+160del	ENSP00000504257.1:n.1272+157_1272+160del
ENST00000679189.1:c.921+157_921+160del	ENSP00000503356.1:n.921+157_921+160del
ENST00000341012.11:c.1110+157_1110+160del	ENSP00000343034.7:n.1110+157_1110+160del
ENST00000372228.7:c.1338+157_1338+160del	ENSP00000361302.3:n.1338+157_1338+160del
ENST00000402686.7:c.1272+157_1272+160del	ENSP00000385797.3:n.1272+157_1272+160del
ENST00000404875.6:c.921+157_921+160del	ENSP00000384531.2:n.921+157_921+160del
ENST00000423007.5:c.1272+157_1272+160del	ENSP00000404119.1:n.1272+157_1272+160del
ENST00000485278.5:n.1827+157_1827+160del
NM_001077365.1:c.1272+157_1272+160del	NP_001070833.1:n.1272+157_1272+160del
NM_001077366.1:c.1110+157_1110+160del	NP_001070834.1:n.1110+157_1110+160del
NM_001136113.1:c.1272+157_1272+160del	NP_001129585.1:n.1272+157_1272+160del
NM_001136114.1:c.921+157_921+160del	NP_001129586.1:n.921+157_921+160del
NM_007171.3:c.1338+157_1338+160del	NP_009102.3:n.1338+157_1338+160del
XM_005272156.1:c.1338+157_1338+160del	XP_005272213.1:n.1338+157_1338+160del
XM_005272158.1:c.1176+157_1176+160del	XP_005272215.1:n.1176+157_1176+160del
XM_005272159.1:c.987+157_987+160del	XP_005272216.1:n.987+157_987+160del
XM_005272162.1:c.141+157_141+160del	XP_005272219.1:n.141+157_141+160del
XM_006716932.1:c.987+157_987+160del	XP_006716995.1:n.987+157_987+160del
XM_011518140.1:c.1191+157_1191+160del	XP_011516442.1:n.1191+157_1191+160del
XM_011518141.1:c.1125+157_1125+160del	XP_011516443.1:n.1125+157_1125+160del
XM_011518142.1:c.1029+157_1029+160del	XP_011516444.1:n.1029+157_1029+160del
XM_011518143.1:c.1023+157_1023+160del	XP_011516445.1:n.1023+157_1023+160del
XM_011518144.1:c.1338+157_1338+160del	XP_011516446.1:n.1338+157_1338+160del
XM_011518145.1:c.882+157_882+160del	XP_011516447.1:n.882+157_882+160del
XM_011518146.1:c.1023+157_1023+160del	XP_011516448.1:n.1023+157_1023+160del
XR_929703.1:n.1514+157_1514+160del
NM_001353193.1:c.1338+157_1338+160del	NP_001340122.1:n.1338+157_1338+160del
NM_001353194.1:c.1110+157_1110+160del	NP_001340123.1:n.1110+157_1110+160del
NM_001353195.1:c.921+157_921+160del	NP_001340124.1:n.921+157_921+160del
NM_001353196.1:c.1182+157_1182+160del	NP_001340125.1:n.1182+157_1182+160del
NM_001353197.1:c.1176+157_1176+160del	NP_001340126.1:n.1176+157_1176+160del
NM_001353198.1:c.1176+157_1176+160del	NP_001340127.1:n.1176+157_1176+160del
NM_001353199.1:c.987+157_987+160del	NP_001340128.1:n.987+157_987+160del
NM_001353200.1:c.816+157_816+160del	NP_001340129.1:n.816+157_816+160del
NR_148391.1:n.1322+157_1322+160del
NR_148392.1:n.1540+157_1540+160del
NR_148393.1:n.1322+157_1322+160del
NR_148394.1:n.1215+157_1215+160del
NR_148395.1:n.1474+157_1474+160del
NR_148396.1:n.1108+157_1108+160del
NR_148397.1:n.1372+157_1372+160del
NR_148398.1:n.1327+157_1327+160del
NR_148399.1:n.1714+157_1714+160del
NR_148400.1:n.1313+157_1313+160del
XM_005272162.3:c.141+157_141+160del	XP_005272219.1:n.141+157_141+160del
XM_006716932.2:c.987+157_987+160del	XP_006716995.1:n.987+157_987+160del
XM_011518140.2:c.1191+157_1191+160del	XP_011516442.1:n.1191+157_1191+160del
XM_011518141.2:c.1125+157_1125+160del	XP_011516443.1:n.1125+157_1125+160del
XM_011518142.2:c.1029+157_1029+160del	XP_011516444.1:n.1029+157_1029+160del
XM_011518143.2:c.1023+157_1023+160del	XP_011516445.1:n.1023+157_1023+160del
XM_011518145.2:c.882+157_882+160del	XP_011516447.1:n.882+157_882+160del
XM_017014205.2:c.141+157_141+160del	XP_016869694.1:n.141+157_141+160del
XM_024447380.1:c.141+157_141+160del	XP_024303148.1:n.141+157_141+160del
XM_024447381.1:c.447+157_447+160del	XP_024303149.1:n.447+157_447+160del
XM_024447382.1:c.141+157_141+160del	XP_024303150.1:n.141+157_141+160del
XR_001746160.2:n.1442+157_1442+160del
XR_001746162.2:n.1508+157_1508+160del
XR_001746164.1:n.1225+157_1225+160del
XR_001746166.2:n.1659+157_1659+160del
NM_001077365.2:c.1272+157_1272+160del MANE Select	NP_001070833.1:n.1272+157_1272+160del
NM_001077366.2:c.1110+157_1110+160del	NP_001070834.1:n.1110+157_1110+160del
NM_001136113.2:c.1272+157_1272+160del	NP_001129585.1:n.1272+157_1272+160del
NM_001136114.2:c.921+157_921+160del	NP_001129586.1:n.921+157_921+160del
NM_001353193.2:c.1338+157_1338+160del	NP_001340122.2:n.1338+157_1338+160del
NM_001353194.2:c.1110+157_1110+160del	NP_001340123.1:n.1110+157_1110+160del
NM_001353195.2:c.921+157_921+160del	NP_001340124.1:n.921+157_921+160del
NM_001353196.2:c.1182+157_1182+160del	NP_001340125.1:n.1182+157_1182+160del
NM_001353197.2:c.1176+157_1176+160del	NP_001340126.2:n.1176+157_1176+160del
NM_001353198.2:c.1176+157_1176+160del	NP_001340127.2:n.1176+157_1176+160del
NM_001353199.2:c.987+157_987+160del	NP_001340128.2:n.987+157_987+160del
NM_001353200.2:c.816+157_816+160del	NP_001340129.1:n.816+157_816+160del
NM_001374689.1:c.1260+157_1260+160del	NP_001361618.1:n.1260+157_1260+160del
NM_001374690.1:c.1272+157_1272+160del	NP_001361619.1:n.1272+157_1272+160del
NM_001374691.1:c.921+157_921+160del	NP_001361620.1:n.921+157_921+160del
NM_001374692.1:c.921+157_921+160del	NP_001361621.1:n.921+157_921+160del
NM_001374693.1:c.921+157_921+160del	NP_001361622.1:n.921+157_921+160del
NM_001374695.1:c.882+157_882+160del	NP_001361624.1:n.882+157_882+160del
NM_007171.4:c.1338+157_1338+160del	NP_009102.4:n.1338+157_1338+160del
NR_148391.2:n.1306+157_1306+160del
NR_148392.2:n.1524+157_1524+160del
NR_148393.2:n.1306+157_1306+160del
NR_148394.2:n.1199+157_1199+160del
NR_148395.2:n.1458+157_1458+160del
NR_148396.2:n.1092+157_1092+160del
NR_148397.2:n.1356+157_1356+160del
NR_148398.2:n.1311+157_1311+160del
NR_148399.2:n.1698+157_1698+160del
NR_148400.2:n.1297+157_1297+160del