Canonical Allele Identifier: CA1129598264

Gene: POMT1

Linked Data

• dbSNP Id: rs1948352268
• gnomAD v3: 9-131515878-ACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACG-A
• gnomAD v4: 9-131515878-ACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515879_131515948del , CM000671.2:g.131515879_131515948del	GRCh38
NC_000009.11:g.134391266_134391335del , CM000671.1:g.134391266_134391335del	GRCh37
NC_000009.10:g.133381087_133381156del	NCBI36
NG_008896.1:g.17978_18047del
NG_008896.2:g.17978_18047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+357_1110+426del	ENSP00000343034.7:n.1110+357_1110+426del
ENST00000404875.7:n.1812+357_1812+426del
ENST00000423007.6:c.1329+357_1329+426del	ENSP00000404119.2:n.1329+357_1329+426del
ENST00000677295.2:c.*1616+357_*1616+426del	ENSP00000504346.2:n.*1616+357_*1616+426del
ENST00000678264.2:c.*1455+357_*1455+426del	ENSP00000503157.2:n.*1455+357_*1455+426del
ENST00000682070.1:n.1737+357_1737+426del
ENST00000682539.1:c.97+357_97+426del
ENST00000682813.1:n.1537+357_1537+426del
ENST00000683392.1:n.4019+357_4019+426del
ENST00000683712.1:n.1677+357_1677+426del
ENST00000683900.1:n.3172+357_3172+426del
ENST00000684062.1:n.1938+357_1938+426del
ENST00000684579.1:n.3118+357_3118+426del
ENST00000341012.12:c.1110+357_1110+426del	ENSP00000343034.7:n.1110+357_1110+426del
ENST00000372220.5:c.141+357_141+426del	ENSP00000361294.5:n.141+357_141+426del
ENST00000372228.9:c.1338+357_1338+426del	ENSP00000361302.3:n.1338+357_1338+426del
ENST00000402686.8:c.1272+357_1272+426del MANE Select	ENSP00000385797.4:n.1272+357_1272+426del
ENST00000676640.1:c.1272+357_1272+426del	ENSP00000503281.1:n.1272+357_1272+426del
ENST00000676803.1:c.447+357_447+426del	ENSP00000503093.1:n.447+357_447+426del
ENST00000676835.1:c.*487+357_*487+426del	ENSP00000502911.1:n.*487+357_*487+426del
ENST00000677029.1:c.816+357_816+426del	ENSP00000502936.1:n.816+357_816+426del
ENST00000677099.1:c.*982+357_*982+426del	ENSP00000504553.1:n.*982+357_*982+426del
ENST00000677216.1:c.921+357_921+426del	ENSP00000503772.1:n.921+357_921+426del
ENST00000677295.1:c.*649+357_*649+426del	ENSP00000504346.1:n.*649+357_*649+426del
ENST00000677444.1:c.1078+357_1078+426del
ENST00000677586.1:n.753+357_753+426del
ENST00000677626.1:c.921+357_921+426del	ENSP00000503552.1:n.921+357_921+426del
ENST00000677677.1:n.1232+357_1232+426del
ENST00000677853.1:c.*280+357_*280+426del	ENSP00000503488.1:n.*280+357_*280+426del
ENST00000677944.1:c.534+357_534+426del
ENST00000678264.1:c.*649+357_*649+426del	ENSP00000503157.1:n.*649+357_*649+426del
ENST00000678303.1:c.1182+357_1182+426del	ENSP00000503696.1:n.1182+357_1182+426del
ENST00000678366.1:c.*1521+357_*1521+426del	ENSP00000504353.1:n.*1521+357_*1521+426del
ENST00000678546.1:c.*1217+357_*1217+426del	ENSP00000503062.1:n.*1217+357_*1217+426del
ENST00000678548.1:c.*1344+357_*1344+426del	ENSP00000503934.1:n.*1344+357_*1344+426del
ENST00000678626.1:n.969+357_969+426del
ENST00000678733.1:c.353+357_353+426del
ENST00000678739.1:c.*1598+357_*1598+426del	ENSP00000503806.1:n.*1598+357_*1598+426del
ENST00000678795.1:n.359+357_359+426del
ENST00000678833.1:c.*719+357_*719+426del	ENSP00000503893.1:n.*719+357_*719+426del
ENST00000678942.1:c.452+357_452+426del	ENSP00000504690.1:n.452+357_452+426del
ENST00000679023.1:c.1110+357_1110+426del	ENSP00000503718.1:n.1110+357_1110+426del
ENST00000679076.1:c.891+357_891+426del
ENST00000679111.1:c.1272+357_1272+426del	ENSP00000504257.1:n.1272+357_1272+426del
ENST00000679189.1:c.921+357_921+426del	ENSP00000503356.1:n.921+357_921+426del
ENST00000341012.11:c.1110+357_1110+426del	ENSP00000343034.7:n.1110+357_1110+426del
ENST00000372228.7:c.1338+357_1338+426del	ENSP00000361302.3:n.1338+357_1338+426del
ENST00000402686.7:c.1272+357_1272+426del	ENSP00000385797.3:n.1272+357_1272+426del
ENST00000404875.6:c.921+357_921+426del	ENSP00000384531.2:n.921+357_921+426del
ENST00000423007.5:c.1272+357_1272+426del	ENSP00000404119.1:n.1272+357_1272+426del
ENST00000485278.5:n.1827+357_1827+426del
NM_001077365.1:c.1272+357_1272+426del	NP_001070833.1:n.1272+357_1272+426del
NM_001077366.1:c.1110+357_1110+426del	NP_001070834.1:n.1110+357_1110+426del
NM_001136113.1:c.1272+357_1272+426del	NP_001129585.1:n.1272+357_1272+426del
NM_001136114.1:c.921+357_921+426del	NP_001129586.1:n.921+357_921+426del
NM_007171.3:c.1338+357_1338+426del	NP_009102.3:n.1338+357_1338+426del
XM_005272156.1:c.1338+357_1338+426del	XP_005272213.1:n.1338+357_1338+426del
XM_005272158.1:c.1176+357_1176+426del	XP_005272215.1:n.1176+357_1176+426del
XM_005272159.1:c.987+357_987+426del	XP_005272216.1:n.987+357_987+426del
XM_005272162.1:c.141+357_141+426del	XP_005272219.1:n.141+357_141+426del
XM_006716932.1:c.987+357_987+426del	XP_006716995.1:n.987+357_987+426del
XM_011518140.1:c.1191+357_1191+426del	XP_011516442.1:n.1191+357_1191+426del
XM_011518141.1:c.1125+357_1125+426del	XP_011516443.1:n.1125+357_1125+426del
XM_011518142.1:c.1029+357_1029+426del	XP_011516444.1:n.1029+357_1029+426del
XM_011518143.1:c.1023+357_1023+426del	XP_011516445.1:n.1023+357_1023+426del
XM_011518144.1:c.1338+357_1338+426del	XP_011516446.1:n.1338+357_1338+426del
XM_011518145.1:c.882+357_882+426del	XP_011516447.1:n.882+357_882+426del
XM_011518146.1:c.1023+357_1023+426del	XP_011516448.1:n.1023+357_1023+426del
XR_929703.1:n.1514+357_1514+426del
NM_001353193.1:c.1338+357_1338+426del	NP_001340122.1:n.1338+357_1338+426del
NM_001353194.1:c.1110+357_1110+426del	NP_001340123.1:n.1110+357_1110+426del
NM_001353195.1:c.921+357_921+426del	NP_001340124.1:n.921+357_921+426del
NM_001353196.1:c.1182+357_1182+426del	NP_001340125.1:n.1182+357_1182+426del
NM_001353197.1:c.1176+357_1176+426del	NP_001340126.1:n.1176+357_1176+426del
NM_001353198.1:c.1176+357_1176+426del	NP_001340127.1:n.1176+357_1176+426del
NM_001353199.1:c.987+357_987+426del	NP_001340128.1:n.987+357_987+426del
NM_001353200.1:c.816+357_816+426del	NP_001340129.1:n.816+357_816+426del
NR_148391.1:n.1322+357_1322+426del
NR_148392.1:n.1540+357_1540+426del
NR_148393.1:n.1322+357_1322+426del
NR_148394.1:n.1215+357_1215+426del
NR_148395.1:n.1474+357_1474+426del
NR_148396.1:n.1108+357_1108+426del
NR_148397.1:n.1372+357_1372+426del
NR_148398.1:n.1327+357_1327+426del
NR_148399.1:n.1714+357_1714+426del
NR_148400.1:n.1313+357_1313+426del
XM_005272162.3:c.141+357_141+426del	XP_005272219.1:n.141+357_141+426del
XM_006716932.2:c.987+357_987+426del	XP_006716995.1:n.987+357_987+426del
XM_011518140.2:c.1191+357_1191+426del	XP_011516442.1:n.1191+357_1191+426del
XM_011518141.2:c.1125+357_1125+426del	XP_011516443.1:n.1125+357_1125+426del
XM_011518142.2:c.1029+357_1029+426del	XP_011516444.1:n.1029+357_1029+426del
XM_011518143.2:c.1023+357_1023+426del	XP_011516445.1:n.1023+357_1023+426del
XM_011518145.2:c.882+357_882+426del	XP_011516447.1:n.882+357_882+426del
XM_017014205.2:c.141+357_141+426del	XP_016869694.1:n.141+357_141+426del
XM_024447380.1:c.141+357_141+426del	XP_024303148.1:n.141+357_141+426del
XM_024447381.1:c.447+357_447+426del	XP_024303149.1:n.447+357_447+426del
XM_024447382.1:c.141+357_141+426del	XP_024303150.1:n.141+357_141+426del
XR_001746160.2:n.1442+357_1442+426del
XR_001746162.2:n.1508+357_1508+426del
XR_001746164.1:n.1225+357_1225+426del
XR_001746166.2:n.1659+357_1659+426del
NM_001077365.2:c.1272+357_1272+426del MANE Select	NP_001070833.1:n.1272+357_1272+426del
NM_001077366.2:c.1110+357_1110+426del	NP_001070834.1:n.1110+357_1110+426del
NM_001136113.2:c.1272+357_1272+426del	NP_001129585.1:n.1272+357_1272+426del
NM_001136114.2:c.921+357_921+426del	NP_001129586.1:n.921+357_921+426del
NM_001353193.2:c.1338+357_1338+426del	NP_001340122.2:n.1338+357_1338+426del
NM_001353194.2:c.1110+357_1110+426del	NP_001340123.1:n.1110+357_1110+426del
NM_001353195.2:c.921+357_921+426del	NP_001340124.1:n.921+357_921+426del
NM_001353196.2:c.1182+357_1182+426del	NP_001340125.1:n.1182+357_1182+426del
NM_001353197.2:c.1176+357_1176+426del	NP_001340126.2:n.1176+357_1176+426del
NM_001353198.2:c.1176+357_1176+426del	NP_001340127.2:n.1176+357_1176+426del
NM_001353199.2:c.987+357_987+426del	NP_001340128.2:n.987+357_987+426del
NM_001353200.2:c.816+357_816+426del	NP_001340129.1:n.816+357_816+426del
NM_001374689.1:c.1260+357_1260+426del	NP_001361618.1:n.1260+357_1260+426del
NM_001374690.1:c.1272+357_1272+426del	NP_001361619.1:n.1272+357_1272+426del
NM_001374691.1:c.921+357_921+426del	NP_001361620.1:n.921+357_921+426del
NM_001374692.1:c.921+357_921+426del	NP_001361621.1:n.921+357_921+426del
NM_001374693.1:c.921+357_921+426del	NP_001361622.1:n.921+357_921+426del
NM_001374695.1:c.882+357_882+426del	NP_001361624.1:n.882+357_882+426del
NM_007171.4:c.1338+357_1338+426del	NP_009102.4:n.1338+357_1338+426del
NR_148391.2:n.1306+357_1306+426del
NR_148392.2:n.1524+357_1524+426del
NR_148393.2:n.1306+357_1306+426del
NR_148394.2:n.1199+357_1199+426del
NR_148395.2:n.1458+357_1458+426del
NR_148396.2:n.1092+357_1092+426del
NR_148397.2:n.1356+357_1356+426del
NR_148398.2:n.1311+357_1311+426del
NR_148399.2:n.1698+357_1698+426del
NR_148400.2:n.1297+357_1297+426del