Canonical Allele Identifier: CA590753297
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1469344811
gnomAD v2: 9-134391270-ACACTTCCTCACATGGAG-A
gnomAD v3: 9-131515883-ACACTTCCTCACATGGAG-A
gnomAD v4: 9-131515883-ACACTTCCTCACATGGAG-A
MyVariant Identifiers: chr9:g.134391271_134391287del (hg19) chr9:g.134391300_134391321delinsGGGAG (hg19) chr9:g.131515884_131515900del (hg38) chr9:g.131515913_131515934delinsGGGAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515913_131515929del , CM000671.2:g.131515913_131515929del GRCh38
NC_000009.11:g.134391300_134391316del , CM000671.1:g.134391300_134391316del GRCh37
NC_000009.10:g.133381121_133381137del NCBI36
NG_008896.1:g.18012_18028del
NG_008896.2:g.18012_18028del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+391_1110+407del ENSP00000343034.7:n.1110+391_1110+407del
ENST00000404875.7:n.1812+391_1812+407del
ENST00000423007.6:c.1329+391_1329+407del ENSP00000404119.2:n.1329+391_1329+407del
ENST00000677295.2:c.*1616+391_*1616+407del ENSP00000504346.2:n.*1616+391_*1616+407del
ENST00000678264.2:c.*1455+391_*1455+407del ENSP00000503157.2:n.*1455+391_*1455+407del
ENST00000682070.1:n.1737+391_1737+407del
ENST00000682539.1:c.97+391_97+407del
ENST00000682813.1:n.1537+391_1537+407del
ENST00000683392.1:n.4019+391_4019+407del
ENST00000683712.1:n.1677+391_1677+407del
ENST00000683900.1:n.3172+391_3172+407del
ENST00000684062.1:n.1938+391_1938+407del
ENST00000684579.1:n.3118+391_3118+407del
ENST00000341012.12:c.1110+391_1110+407del ENSP00000343034.7:n.1110+391_1110+407del
ENST00000372220.5:c.141+391_141+407del ENSP00000361294.5:n.141+391_141+407del
ENST00000372228.9:c.1338+391_1338+407del ENSP00000361302.3:n.1338+391_1338+407del
ENST00000402686.8:c.1272+391_1272+407del MANE Select ENSP00000385797.4:n.1272+391_1272+407del
ENST00000676640.1:c.1272+391_1272+407del ENSP00000503281.1:n.1272+391_1272+407del
ENST00000676803.1:c.447+391_447+407del ENSP00000503093.1:n.447+391_447+407del
ENST00000676835.1:c.*487+391_*487+407del ENSP00000502911.1:n.*487+391_*487+407del
ENST00000677029.1:c.816+391_816+407del ENSP00000502936.1:n.816+391_816+407del
ENST00000677099.1:c.*982+391_*982+407del ENSP00000504553.1:n.*982+391_*982+407del
ENST00000677216.1:c.921+391_921+407del ENSP00000503772.1:n.921+391_921+407del
ENST00000677295.1:c.*649+391_*649+407del ENSP00000504346.1:n.*649+391_*649+407del
ENST00000677444.1:c.1078+391_1078+407del
ENST00000677586.1:n.753+391_753+407del
ENST00000677626.1:c.921+391_921+407del ENSP00000503552.1:n.921+391_921+407del
ENST00000677677.1:n.1232+391_1232+407del
ENST00000677853.1:c.*280+391_*280+407del ENSP00000503488.1:n.*280+391_*280+407del
ENST00000677944.1:c.534+391_534+407del
ENST00000678264.1:c.*649+391_*649+407del ENSP00000503157.1:n.*649+391_*649+407del
ENST00000678303.1:c.1182+391_1182+407del ENSP00000503696.1:n.1182+391_1182+407del
ENST00000678366.1:c.*1521+391_*1521+407del ENSP00000504353.1:n.*1521+391_*1521+407del
ENST00000678546.1:c.*1217+391_*1217+407del ENSP00000503062.1:n.*1217+391_*1217+407del
ENST00000678548.1:c.*1344+391_*1344+407del ENSP00000503934.1:n.*1344+391_*1344+407del
ENST00000678626.1:n.969+391_969+407del
ENST00000678733.1:c.353+391_353+407del
ENST00000678739.1:c.*1598+391_*1598+407del ENSP00000503806.1:n.*1598+391_*1598+407del
ENST00000678795.1:n.359+391_359+407del
ENST00000678833.1:c.*719+391_*719+407del ENSP00000503893.1:n.*719+391_*719+407del
ENST00000678942.1:c.452+391_452+407del ENSP00000504690.1:n.452+391_452+407del
ENST00000679023.1:c.1110+391_1110+407del ENSP00000503718.1:n.1110+391_1110+407del
ENST00000679076.1:c.891+391_891+407del
ENST00000679111.1:c.1272+391_1272+407del ENSP00000504257.1:n.1272+391_1272+407del
ENST00000679189.1:c.921+391_921+407del ENSP00000503356.1:n.921+391_921+407del
ENST00000341012.11:c.1110+391_1110+407del ENSP00000343034.7:n.1110+391_1110+407del
ENST00000372228.7:c.1338+391_1338+407del ENSP00000361302.3:n.1338+391_1338+407del
ENST00000402686.7:c.1272+391_1272+407del ENSP00000385797.3:n.1272+391_1272+407del
ENST00000404875.6:c.921+391_921+407del ENSP00000384531.2:n.921+391_921+407del
ENST00000423007.5:c.1272+391_1272+407del ENSP00000404119.1:n.1272+391_1272+407del
ENST00000485278.5:n.1827+391_1827+407del
NM_001077365.1:c.1272+391_1272+407del NP_001070833.1:n.1272+391_1272+407del
NM_001077366.1:c.1110+391_1110+407del NP_001070834.1:n.1110+391_1110+407del
NM_001136113.1:c.1272+391_1272+407del NP_001129585.1:n.1272+391_1272+407del
NM_001136114.1:c.921+391_921+407del NP_001129586.1:n.921+391_921+407del
NM_007171.3:c.1338+391_1338+407del NP_009102.3:n.1338+391_1338+407del
XM_005272156.1:c.1338+391_1338+407del XP_005272213.1:n.1338+391_1338+407del
XM_005272158.1:c.1176+391_1176+407del XP_005272215.1:n.1176+391_1176+407del
XM_005272159.1:c.987+391_987+407del XP_005272216.1:n.987+391_987+407del
XM_005272162.1:c.141+391_141+407del XP_005272219.1:n.141+391_141+407del
XM_006716932.1:c.987+391_987+407del XP_006716995.1:n.987+391_987+407del
XM_011518140.1:c.1191+391_1191+407del XP_011516442.1:n.1191+391_1191+407del
XM_011518141.1:c.1125+391_1125+407del XP_011516443.1:n.1125+391_1125+407del
XM_011518142.1:c.1029+391_1029+407del XP_011516444.1:n.1029+391_1029+407del
XM_011518143.1:c.1023+391_1023+407del XP_011516445.1:n.1023+391_1023+407del
XM_011518144.1:c.1338+391_1338+407del XP_011516446.1:n.1338+391_1338+407del
XM_011518145.1:c.882+391_882+407del XP_011516447.1:n.882+391_882+407del
XM_011518146.1:c.1023+391_1023+407del XP_011516448.1:n.1023+391_1023+407del
XR_929703.1:n.1514+391_1514+407del
NM_001353193.1:c.1338+391_1338+407del NP_001340122.1:n.1338+391_1338+407del
NM_001353194.1:c.1110+391_1110+407del NP_001340123.1:n.1110+391_1110+407del
NM_001353195.1:c.921+391_921+407del NP_001340124.1:n.921+391_921+407del
NM_001353196.1:c.1182+391_1182+407del NP_001340125.1:n.1182+391_1182+407del
NM_001353197.1:c.1176+391_1176+407del NP_001340126.1:n.1176+391_1176+407del
NM_001353198.1:c.1176+391_1176+407del NP_001340127.1:n.1176+391_1176+407del
NM_001353199.1:c.987+391_987+407del NP_001340128.1:n.987+391_987+407del
NM_001353200.1:c.816+391_816+407del NP_001340129.1:n.816+391_816+407del
NR_148391.1:n.1322+391_1322+407del
NR_148392.1:n.1540+391_1540+407del
NR_148393.1:n.1322+391_1322+407del
NR_148394.1:n.1215+391_1215+407del
NR_148395.1:n.1474+391_1474+407del
NR_148396.1:n.1108+391_1108+407del
NR_148397.1:n.1372+391_1372+407del
NR_148398.1:n.1327+391_1327+407del
NR_148399.1:n.1714+391_1714+407del
NR_148400.1:n.1313+391_1313+407del
XM_005272162.3:c.141+391_141+407del XP_005272219.1:n.141+391_141+407del
XM_006716932.2:c.987+391_987+407del XP_006716995.1:n.987+391_987+407del
XM_011518140.2:c.1191+391_1191+407del XP_011516442.1:n.1191+391_1191+407del
XM_011518141.2:c.1125+391_1125+407del XP_011516443.1:n.1125+391_1125+407del
XM_011518142.2:c.1029+391_1029+407del XP_011516444.1:n.1029+391_1029+407del
XM_011518143.2:c.1023+391_1023+407del XP_011516445.1:n.1023+391_1023+407del
XM_011518145.2:c.882+391_882+407del XP_011516447.1:n.882+391_882+407del
XM_017014205.2:c.141+391_141+407del XP_016869694.1:n.141+391_141+407del
XM_024447380.1:c.141+391_141+407del XP_024303148.1:n.141+391_141+407del
XM_024447381.1:c.447+391_447+407del XP_024303149.1:n.447+391_447+407del
XM_024447382.1:c.141+391_141+407del XP_024303150.1:n.141+391_141+407del
XR_001746160.2:n.1442+391_1442+407del
XR_001746162.2:n.1508+391_1508+407del
XR_001746164.1:n.1225+391_1225+407del
XR_001746166.2:n.1659+391_1659+407del
NM_001077365.2:c.1272+391_1272+407del MANE Select NP_001070833.1:n.1272+391_1272+407del
NM_001077366.2:c.1110+391_1110+407del NP_001070834.1:n.1110+391_1110+407del
NM_001136113.2:c.1272+391_1272+407del NP_001129585.1:n.1272+391_1272+407del
NM_001136114.2:c.921+391_921+407del NP_001129586.1:n.921+391_921+407del
NM_001353193.2:c.1338+391_1338+407del NP_001340122.2:n.1338+391_1338+407del
NM_001353194.2:c.1110+391_1110+407del NP_001340123.1:n.1110+391_1110+407del
NM_001353195.2:c.921+391_921+407del NP_001340124.1:n.921+391_921+407del
NM_001353196.2:c.1182+391_1182+407del NP_001340125.1:n.1182+391_1182+407del
NM_001353197.2:c.1176+391_1176+407del NP_001340126.2:n.1176+391_1176+407del
NM_001353198.2:c.1176+391_1176+407del NP_001340127.2:n.1176+391_1176+407del
NM_001353199.2:c.987+391_987+407del NP_001340128.2:n.987+391_987+407del
NM_001353200.2:c.816+391_816+407del NP_001340129.1:n.816+391_816+407del
NM_001374689.1:c.1260+391_1260+407del NP_001361618.1:n.1260+391_1260+407del
NM_001374690.1:c.1272+391_1272+407del NP_001361619.1:n.1272+391_1272+407del
NM_001374691.1:c.921+391_921+407del NP_001361620.1:n.921+391_921+407del
NM_001374692.1:c.921+391_921+407del NP_001361621.1:n.921+391_921+407del
NM_001374693.1:c.921+391_921+407del NP_001361622.1:n.921+391_921+407del
NM_001374695.1:c.882+391_882+407del NP_001361624.1:n.882+391_882+407del
NM_007171.4:c.1338+391_1338+407del NP_009102.4:n.1338+391_1338+407del
NR_148391.2:n.1306+391_1306+407del
NR_148392.2:n.1524+391_1524+407del
NR_148393.2:n.1306+391_1306+407del
NR_148394.2:n.1199+391_1199+407del
NR_148395.2:n.1458+391_1458+407del
NR_148396.2:n.1092+391_1092+407del
NR_148397.2:n.1356+391_1356+407del
NR_148398.2:n.1311+391_1311+407del
NR_148399.2:n.1698+391_1698+407del
NR_148400.2:n.1297+391_1297+407del
Search 100 bp 5'
Search 100 bp 3'