Canonical Allele Identifier: CA590753218
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1948192408
gnomAD v2: 9-134391088-CGGAACACTTCCTCACACGGAGCACTTCCTGTAACAGGACACTTCCTCACACGGAGCACTTCCTCTAACATGGAGCACTTCCTGTAACACAGGACACTTCCTCACACGGAGCACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACAGGGAGCACTTTCTCTAACACAGGACACTTCCTCACAT-C
gnomAD v3: 9-131515701-CGGAACACTTCCTCACACGGAGCACTTCCTGTAACAGGACACTTCCTCACACGGAGCACTTCCTCTAACATGGAGCACTTCCTGTAACACAGGACACTTCCTCACACGGAGCACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACAGGGAGCACTTTCTCTAACACAGGACACTTCCTCACAT-C
gnomAD v4: 9-131515701-CGGAACACTTCCTCACACGGAGCACTTCCTGTAACAGGACACTTCCTCACACGGAGCACTTCCTCTAACATGGAGCACTTCCTGTAACACAGGACACTTCCTCACACGGAGCACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACAGGGAGCACTTTCTCTAACACAGGACACTTCCTCACAT-C
MyVariant Identifiers: chr9:g.134391092_134391317delinsGCACTTCCTCACATGGAGCACTTCCTCACAG (hg19) chr9:g.131515705_131515930delinsGCACTTCCTCACATGGAGCACTTCCTCACAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515705_131515899del , CM000671.2:g.131515705_131515899del GRCh38
NC_000009.11:g.134391092_134391286del , CM000671.1:g.134391092_134391286del GRCh37
NC_000009.10:g.133380913_133381107del NCBI36
NG_008896.1:g.17804_17998del
NG_008896.2:g.17804_17998del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+183_1110+377del ENSP00000343034.7:n.1110+183_1110+377del
ENST00000404875.7:n.1812+183_1812+377del
ENST00000423007.6:c.1329+183_1329+377del ENSP00000404119.2:n.1329+183_1329+377del
ENST00000677295.2:c.*1616+183_*1616+377del ENSP00000504346.2:n.*1616+183_*1616+377del
ENST00000678264.2:c.*1455+183_*1455+377del ENSP00000503157.2:n.*1455+183_*1455+377del
ENST00000682070.1:n.1737+183_1737+377del
ENST00000682539.1:c.97+183_97+377del
ENST00000682813.1:n.1537+183_1537+377del
ENST00000683392.1:n.4019+183_4019+377del
ENST00000683712.1:n.1677+183_1677+377del
ENST00000683900.1:n.3172+183_3172+377del
ENST00000684062.1:n.1938+183_1938+377del
ENST00000684579.1:n.3118+183_3118+377del
ENST00000341012.12:c.1110+183_1110+377del ENSP00000343034.7:n.1110+183_1110+377del
ENST00000372220.5:c.141+183_141+377del ENSP00000361294.5:n.141+183_141+377del
ENST00000372228.9:c.1338+183_1338+377del ENSP00000361302.3:n.1338+183_1338+377del
ENST00000402686.8:c.1272+183_1272+377del MANE Select ENSP00000385797.4:n.1272+183_1272+377del
ENST00000676640.1:c.1272+183_1272+377del ENSP00000503281.1:n.1272+183_1272+377del
ENST00000676803.1:c.447+183_447+377del ENSP00000503093.1:n.447+183_447+377del
ENST00000676835.1:c.*487+183_*487+377del ENSP00000502911.1:n.*487+183_*487+377del
ENST00000677029.1:c.816+183_816+377del ENSP00000502936.1:n.816+183_816+377del
ENST00000677099.1:c.*982+183_*982+377del ENSP00000504553.1:n.*982+183_*982+377del
ENST00000677216.1:c.921+183_921+377del ENSP00000503772.1:n.921+183_921+377del
ENST00000677295.1:c.*649+183_*649+377del ENSP00000504346.1:n.*649+183_*649+377del
ENST00000677444.1:c.1078+183_1078+377del
ENST00000677586.1:n.753+183_753+377del
ENST00000677626.1:c.921+183_921+377del ENSP00000503552.1:n.921+183_921+377del
ENST00000677677.1:n.1232+183_1232+377del
ENST00000677853.1:c.*280+183_*280+377del ENSP00000503488.1:n.*280+183_*280+377del
ENST00000677944.1:c.534+183_534+377del
ENST00000678264.1:c.*649+183_*649+377del ENSP00000503157.1:n.*649+183_*649+377del
ENST00000678303.1:c.1182+183_1182+377del ENSP00000503696.1:n.1182+183_1182+377del
ENST00000678366.1:c.*1521+183_*1521+377del ENSP00000504353.1:n.*1521+183_*1521+377del
ENST00000678546.1:c.*1217+183_*1217+377del ENSP00000503062.1:n.*1217+183_*1217+377del
ENST00000678548.1:c.*1344+183_*1344+377del ENSP00000503934.1:n.*1344+183_*1344+377del
ENST00000678626.1:n.969+183_969+377del
ENST00000678733.1:c.353+183_353+377del
ENST00000678739.1:c.*1598+183_*1598+377del ENSP00000503806.1:n.*1598+183_*1598+377del
ENST00000678795.1:n.359+183_359+377del
ENST00000678833.1:c.*719+183_*719+377del ENSP00000503893.1:n.*719+183_*719+377del
ENST00000678942.1:c.452+183_452+377del ENSP00000504690.1:n.452+183_452+377del
ENST00000679023.1:c.1110+183_1110+377del ENSP00000503718.1:n.1110+183_1110+377del
ENST00000679076.1:c.891+183_891+377del
ENST00000679111.1:c.1272+183_1272+377del ENSP00000504257.1:n.1272+183_1272+377del
ENST00000679189.1:c.921+183_921+377del ENSP00000503356.1:n.921+183_921+377del
ENST00000341012.11:c.1110+183_1110+377del ENSP00000343034.7:n.1110+183_1110+377del
ENST00000372228.7:c.1338+183_1338+377del ENSP00000361302.3:n.1338+183_1338+377del
ENST00000402686.7:c.1272+183_1272+377del ENSP00000385797.3:n.1272+183_1272+377del
ENST00000404875.6:c.921+183_921+377del ENSP00000384531.2:n.921+183_921+377del
ENST00000423007.5:c.1272+183_1272+377del ENSP00000404119.1:n.1272+183_1272+377del
ENST00000485278.5:n.1827+183_1827+377del
NM_001077365.1:c.1272+183_1272+377del NP_001070833.1:n.1272+183_1272+377del
NM_001077366.1:c.1110+183_1110+377del NP_001070834.1:n.1110+183_1110+377del
NM_001136113.1:c.1272+183_1272+377del NP_001129585.1:n.1272+183_1272+377del
NM_001136114.1:c.921+183_921+377del NP_001129586.1:n.921+183_921+377del
NM_007171.3:c.1338+183_1338+377del NP_009102.3:n.1338+183_1338+377del
XM_005272156.1:c.1338+183_1338+377del XP_005272213.1:n.1338+183_1338+377del
XM_005272158.1:c.1176+183_1176+377del XP_005272215.1:n.1176+183_1176+377del
XM_005272159.1:c.987+183_987+377del XP_005272216.1:n.987+183_987+377del
XM_005272162.1:c.141+183_141+377del XP_005272219.1:n.141+183_141+377del
XM_006716932.1:c.987+183_987+377del XP_006716995.1:n.987+183_987+377del
XM_011518140.1:c.1191+183_1191+377del XP_011516442.1:n.1191+183_1191+377del
XM_011518141.1:c.1125+183_1125+377del XP_011516443.1:n.1125+183_1125+377del
XM_011518142.1:c.1029+183_1029+377del XP_011516444.1:n.1029+183_1029+377del
XM_011518143.1:c.1023+183_1023+377del XP_011516445.1:n.1023+183_1023+377del
XM_011518144.1:c.1338+183_1338+377del XP_011516446.1:n.1338+183_1338+377del
XM_011518145.1:c.882+183_882+377del XP_011516447.1:n.882+183_882+377del
XM_011518146.1:c.1023+183_1023+377del XP_011516448.1:n.1023+183_1023+377del
XR_929703.1:n.1514+183_1514+377del
NM_001353193.1:c.1338+183_1338+377del NP_001340122.1:n.1338+183_1338+377del
NM_001353194.1:c.1110+183_1110+377del NP_001340123.1:n.1110+183_1110+377del
NM_001353195.1:c.921+183_921+377del NP_001340124.1:n.921+183_921+377del
NM_001353196.1:c.1182+183_1182+377del NP_001340125.1:n.1182+183_1182+377del
NM_001353197.1:c.1176+183_1176+377del NP_001340126.1:n.1176+183_1176+377del
NM_001353198.1:c.1176+183_1176+377del NP_001340127.1:n.1176+183_1176+377del
NM_001353199.1:c.987+183_987+377del NP_001340128.1:n.987+183_987+377del
NM_001353200.1:c.816+183_816+377del NP_001340129.1:n.816+183_816+377del
NR_148391.1:n.1322+183_1322+377del
NR_148392.1:n.1540+183_1540+377del
NR_148393.1:n.1322+183_1322+377del
NR_148394.1:n.1215+183_1215+377del
NR_148395.1:n.1474+183_1474+377del
NR_148396.1:n.1108+183_1108+377del
NR_148397.1:n.1372+183_1372+377del
NR_148398.1:n.1327+183_1327+377del
NR_148399.1:n.1714+183_1714+377del
NR_148400.1:n.1313+183_1313+377del
XM_005272162.3:c.141+183_141+377del XP_005272219.1:n.141+183_141+377del
XM_006716932.2:c.987+183_987+377del XP_006716995.1:n.987+183_987+377del
XM_011518140.2:c.1191+183_1191+377del XP_011516442.1:n.1191+183_1191+377del
XM_011518141.2:c.1125+183_1125+377del XP_011516443.1:n.1125+183_1125+377del
XM_011518142.2:c.1029+183_1029+377del XP_011516444.1:n.1029+183_1029+377del
XM_011518143.2:c.1023+183_1023+377del XP_011516445.1:n.1023+183_1023+377del
XM_011518145.2:c.882+183_882+377del XP_011516447.1:n.882+183_882+377del
XM_017014205.2:c.141+183_141+377del XP_016869694.1:n.141+183_141+377del
XM_024447380.1:c.141+183_141+377del XP_024303148.1:n.141+183_141+377del
XM_024447381.1:c.447+183_447+377del XP_024303149.1:n.447+183_447+377del
XM_024447382.1:c.141+183_141+377del XP_024303150.1:n.141+183_141+377del
XR_001746160.2:n.1442+183_1442+377del
XR_001746162.2:n.1508+183_1508+377del
XR_001746164.1:n.1225+183_1225+377del
XR_001746166.2:n.1659+183_1659+377del
NM_001077365.2:c.1272+183_1272+377del MANE Select NP_001070833.1:n.1272+183_1272+377del
NM_001077366.2:c.1110+183_1110+377del NP_001070834.1:n.1110+183_1110+377del
NM_001136113.2:c.1272+183_1272+377del NP_001129585.1:n.1272+183_1272+377del
NM_001136114.2:c.921+183_921+377del NP_001129586.1:n.921+183_921+377del
NM_001353193.2:c.1338+183_1338+377del NP_001340122.2:n.1338+183_1338+377del
NM_001353194.2:c.1110+183_1110+377del NP_001340123.1:n.1110+183_1110+377del
NM_001353195.2:c.921+183_921+377del NP_001340124.1:n.921+183_921+377del
NM_001353196.2:c.1182+183_1182+377del NP_001340125.1:n.1182+183_1182+377del
NM_001353197.2:c.1176+183_1176+377del NP_001340126.2:n.1176+183_1176+377del
NM_001353198.2:c.1176+183_1176+377del NP_001340127.2:n.1176+183_1176+377del
NM_001353199.2:c.987+183_987+377del NP_001340128.2:n.987+183_987+377del
NM_001353200.2:c.816+183_816+377del NP_001340129.1:n.816+183_816+377del
NM_001374689.1:c.1260+183_1260+377del NP_001361618.1:n.1260+183_1260+377del
NM_001374690.1:c.1272+183_1272+377del NP_001361619.1:n.1272+183_1272+377del
NM_001374691.1:c.921+183_921+377del NP_001361620.1:n.921+183_921+377del
NM_001374692.1:c.921+183_921+377del NP_001361621.1:n.921+183_921+377del
NM_001374693.1:c.921+183_921+377del NP_001361622.1:n.921+183_921+377del
NM_001374695.1:c.882+183_882+377del NP_001361624.1:n.882+183_882+377del
NM_007171.4:c.1338+183_1338+377del NP_009102.4:n.1338+183_1338+377del
NR_148391.2:n.1306+183_1306+377del
NR_148392.2:n.1524+183_1524+377del
NR_148393.2:n.1306+183_1306+377del
NR_148394.2:n.1199+183_1199+377del
NR_148395.2:n.1458+183_1458+377del
NR_148396.2:n.1092+183_1092+377del
NR_148397.2:n.1356+183_1356+377del
NR_148398.2:n.1311+183_1311+377del
NR_148399.2:n.1698+183_1698+377del
NR_148400.2:n.1297+183_1297+377del
Search 100 bp 5'
Search 100 bp 3'