Canonical Allele Identifier: CA590753234
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1948210730
gnomAD v2: 9-134391106-GGAGCACTTCCTGTAACAGGACACTTCCTCACAC-G
gnomAD v3: 9-131515719-GGAGCACTTCCTGTAACAGGACACTTCCTCACAC-G
gnomAD v4: 9-131515719-GGAGCACTTCCTGTAACAGGACACTTCCTCACAC-G
MyVariant Identifiers: chr9:g.134391108_134391181delinsGAGCACTTCCTCTAACATGGAGCACTTCCTGTAACACAGGA (hg19) chr9:g.131515721_131515794delinsGAGCACTTCCTCTAACATGGAGCACTTCCTGTAACACAGGA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515721_131515753del , CM000671.2:g.131515721_131515753del GRCh38
NC_000009.11:g.134391108_134391140del , CM000671.1:g.134391108_134391140del GRCh37
NC_000009.10:g.133380929_133380961del NCBI36
NG_008896.1:g.17820_17852del
NG_008896.2:g.17820_17852del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+199_1110+231del ENSP00000343034.7:n.1110+199_1110+231del
ENST00000404875.7:n.1812+199_1812+231del
ENST00000423007.6:c.1329+199_1329+231del ENSP00000404119.2:n.1329+199_1329+231del
ENST00000677295.2:c.*1616+199_*1616+231del ENSP00000504346.2:n.*1616+199_*1616+231del
ENST00000678264.2:c.*1455+199_*1455+231del ENSP00000503157.2:n.*1455+199_*1455+231del
ENST00000682070.1:n.1737+199_1737+231del
ENST00000682539.1:c.97+199_97+231del
ENST00000682813.1:n.1537+199_1537+231del
ENST00000683392.1:n.4019+199_4019+231del
ENST00000683712.1:n.1677+199_1677+231del
ENST00000683900.1:n.3172+199_3172+231del
ENST00000684062.1:n.1938+199_1938+231del
ENST00000684579.1:n.3118+199_3118+231del
ENST00000341012.12:c.1110+199_1110+231del ENSP00000343034.7:n.1110+199_1110+231del
ENST00000372220.5:c.141+199_141+231del ENSP00000361294.5:n.141+199_141+231del
ENST00000372228.9:c.1338+199_1338+231del ENSP00000361302.3:n.1338+199_1338+231del
ENST00000402686.8:c.1272+199_1272+231del MANE Select ENSP00000385797.4:n.1272+199_1272+231del
ENST00000676640.1:c.1272+199_1272+231del ENSP00000503281.1:n.1272+199_1272+231del
ENST00000676803.1:c.447+199_447+231del ENSP00000503093.1:n.447+199_447+231del
ENST00000676835.1:c.*487+199_*487+231del ENSP00000502911.1:n.*487+199_*487+231del
ENST00000677029.1:c.816+199_816+231del ENSP00000502936.1:n.816+199_816+231del
ENST00000677099.1:c.*982+199_*982+231del ENSP00000504553.1:n.*982+199_*982+231del
ENST00000677216.1:c.921+199_921+231del ENSP00000503772.1:n.921+199_921+231del
ENST00000677295.1:c.*649+199_*649+231del ENSP00000504346.1:n.*649+199_*649+231del
ENST00000677444.1:c.1078+199_1078+231del
ENST00000677586.1:n.753+199_753+231del
ENST00000677626.1:c.921+199_921+231del ENSP00000503552.1:n.921+199_921+231del
ENST00000677677.1:n.1232+199_1232+231del
ENST00000677853.1:c.*280+199_*280+231del ENSP00000503488.1:n.*280+199_*280+231del
ENST00000677944.1:c.534+199_534+231del
ENST00000678264.1:c.*649+199_*649+231del ENSP00000503157.1:n.*649+199_*649+231del
ENST00000678303.1:c.1182+199_1182+231del ENSP00000503696.1:n.1182+199_1182+231del
ENST00000678366.1:c.*1521+199_*1521+231del ENSP00000504353.1:n.*1521+199_*1521+231del
ENST00000678546.1:c.*1217+199_*1217+231del ENSP00000503062.1:n.*1217+199_*1217+231del
ENST00000678548.1:c.*1344+199_*1344+231del ENSP00000503934.1:n.*1344+199_*1344+231del
ENST00000678626.1:n.969+199_969+231del
ENST00000678733.1:c.353+199_353+231del
ENST00000678739.1:c.*1598+199_*1598+231del ENSP00000503806.1:n.*1598+199_*1598+231del
ENST00000678795.1:n.359+199_359+231del
ENST00000678833.1:c.*719+199_*719+231del ENSP00000503893.1:n.*719+199_*719+231del
ENST00000678942.1:c.452+199_452+231del ENSP00000504690.1:n.452+199_452+231del
ENST00000679023.1:c.1110+199_1110+231del ENSP00000503718.1:n.1110+199_1110+231del
ENST00000679076.1:c.891+199_891+231del
ENST00000679111.1:c.1272+199_1272+231del ENSP00000504257.1:n.1272+199_1272+231del
ENST00000679189.1:c.921+199_921+231del ENSP00000503356.1:n.921+199_921+231del
ENST00000341012.11:c.1110+199_1110+231del ENSP00000343034.7:n.1110+199_1110+231del
ENST00000372228.7:c.1338+199_1338+231del ENSP00000361302.3:n.1338+199_1338+231del
ENST00000402686.7:c.1272+199_1272+231del ENSP00000385797.3:n.1272+199_1272+231del
ENST00000404875.6:c.921+199_921+231del ENSP00000384531.2:n.921+199_921+231del
ENST00000423007.5:c.1272+199_1272+231del ENSP00000404119.1:n.1272+199_1272+231del
ENST00000485278.5:n.1827+199_1827+231del
NM_001077365.1:c.1272+199_1272+231del NP_001070833.1:n.1272+199_1272+231del
NM_001077366.1:c.1110+199_1110+231del NP_001070834.1:n.1110+199_1110+231del
NM_001136113.1:c.1272+199_1272+231del NP_001129585.1:n.1272+199_1272+231del
NM_001136114.1:c.921+199_921+231del NP_001129586.1:n.921+199_921+231del
NM_007171.3:c.1338+199_1338+231del NP_009102.3:n.1338+199_1338+231del
XM_005272156.1:c.1338+199_1338+231del XP_005272213.1:n.1338+199_1338+231del
XM_005272158.1:c.1176+199_1176+231del XP_005272215.1:n.1176+199_1176+231del
XM_005272159.1:c.987+199_987+231del XP_005272216.1:n.987+199_987+231del
XM_005272162.1:c.141+199_141+231del XP_005272219.1:n.141+199_141+231del
XM_006716932.1:c.987+199_987+231del XP_006716995.1:n.987+199_987+231del
XM_011518140.1:c.1191+199_1191+231del XP_011516442.1:n.1191+199_1191+231del
XM_011518141.1:c.1125+199_1125+231del XP_011516443.1:n.1125+199_1125+231del
XM_011518142.1:c.1029+199_1029+231del XP_011516444.1:n.1029+199_1029+231del
XM_011518143.1:c.1023+199_1023+231del XP_011516445.1:n.1023+199_1023+231del
XM_011518144.1:c.1338+199_1338+231del XP_011516446.1:n.1338+199_1338+231del
XM_011518145.1:c.882+199_882+231del XP_011516447.1:n.882+199_882+231del
XM_011518146.1:c.1023+199_1023+231del XP_011516448.1:n.1023+199_1023+231del
XR_929703.1:n.1514+199_1514+231del
NM_001353193.1:c.1338+199_1338+231del NP_001340122.1:n.1338+199_1338+231del
NM_001353194.1:c.1110+199_1110+231del NP_001340123.1:n.1110+199_1110+231del
NM_001353195.1:c.921+199_921+231del NP_001340124.1:n.921+199_921+231del
NM_001353196.1:c.1182+199_1182+231del NP_001340125.1:n.1182+199_1182+231del
NM_001353197.1:c.1176+199_1176+231del NP_001340126.1:n.1176+199_1176+231del
NM_001353198.1:c.1176+199_1176+231del NP_001340127.1:n.1176+199_1176+231del
NM_001353199.1:c.987+199_987+231del NP_001340128.1:n.987+199_987+231del
NM_001353200.1:c.816+199_816+231del NP_001340129.1:n.816+199_816+231del
NR_148391.1:n.1322+199_1322+231del
NR_148392.1:n.1540+199_1540+231del
NR_148393.1:n.1322+199_1322+231del
NR_148394.1:n.1215+199_1215+231del
NR_148395.1:n.1474+199_1474+231del
NR_148396.1:n.1108+199_1108+231del
NR_148397.1:n.1372+199_1372+231del
NR_148398.1:n.1327+199_1327+231del
NR_148399.1:n.1714+199_1714+231del
NR_148400.1:n.1313+199_1313+231del
XM_005272162.3:c.141+199_141+231del XP_005272219.1:n.141+199_141+231del
XM_006716932.2:c.987+199_987+231del XP_006716995.1:n.987+199_987+231del
XM_011518140.2:c.1191+199_1191+231del XP_011516442.1:n.1191+199_1191+231del
XM_011518141.2:c.1125+199_1125+231del XP_011516443.1:n.1125+199_1125+231del
XM_011518142.2:c.1029+199_1029+231del XP_011516444.1:n.1029+199_1029+231del
XM_011518143.2:c.1023+199_1023+231del XP_011516445.1:n.1023+199_1023+231del
XM_011518145.2:c.882+199_882+231del XP_011516447.1:n.882+199_882+231del
XM_017014205.2:c.141+199_141+231del XP_016869694.1:n.141+199_141+231del
XM_024447380.1:c.141+199_141+231del XP_024303148.1:n.141+199_141+231del
XM_024447381.1:c.447+199_447+231del XP_024303149.1:n.447+199_447+231del
XM_024447382.1:c.141+199_141+231del XP_024303150.1:n.141+199_141+231del
XR_001746160.2:n.1442+199_1442+231del
XR_001746162.2:n.1508+199_1508+231del
XR_001746164.1:n.1225+199_1225+231del
XR_001746166.2:n.1659+199_1659+231del
NM_001077365.2:c.1272+199_1272+231del MANE Select NP_001070833.1:n.1272+199_1272+231del
NM_001077366.2:c.1110+199_1110+231del NP_001070834.1:n.1110+199_1110+231del
NM_001136113.2:c.1272+199_1272+231del NP_001129585.1:n.1272+199_1272+231del
NM_001136114.2:c.921+199_921+231del NP_001129586.1:n.921+199_921+231del
NM_001353193.2:c.1338+199_1338+231del NP_001340122.2:n.1338+199_1338+231del
NM_001353194.2:c.1110+199_1110+231del NP_001340123.1:n.1110+199_1110+231del
NM_001353195.2:c.921+199_921+231del NP_001340124.1:n.921+199_921+231del
NM_001353196.2:c.1182+199_1182+231del NP_001340125.1:n.1182+199_1182+231del
NM_001353197.2:c.1176+199_1176+231del NP_001340126.2:n.1176+199_1176+231del
NM_001353198.2:c.1176+199_1176+231del NP_001340127.2:n.1176+199_1176+231del
NM_001353199.2:c.987+199_987+231del NP_001340128.2:n.987+199_987+231del
NM_001353200.2:c.816+199_816+231del NP_001340129.1:n.816+199_816+231del
NM_001374689.1:c.1260+199_1260+231del NP_001361618.1:n.1260+199_1260+231del
NM_001374690.1:c.1272+199_1272+231del NP_001361619.1:n.1272+199_1272+231del
NM_001374691.1:c.921+199_921+231del NP_001361620.1:n.921+199_921+231del
NM_001374692.1:c.921+199_921+231del NP_001361621.1:n.921+199_921+231del
NM_001374693.1:c.921+199_921+231del NP_001361622.1:n.921+199_921+231del
NM_001374695.1:c.882+199_882+231del NP_001361624.1:n.882+199_882+231del
NM_007171.4:c.1338+199_1338+231del NP_009102.4:n.1338+199_1338+231del
NR_148391.2:n.1306+199_1306+231del
NR_148392.2:n.1524+199_1524+231del
NR_148393.2:n.1306+199_1306+231del
NR_148394.2:n.1199+199_1199+231del
NR_148395.2:n.1458+199_1458+231del
NR_148396.2:n.1092+199_1092+231del
NR_148397.2:n.1356+199_1356+231del
NR_148398.2:n.1311+199_1311+231del
NR_148399.2:n.1698+199_1698+231del
NR_148400.2:n.1297+199_1297+231del
Search 100 bp 5'
Search 100 bp 3'