Canonical Allele Identifier: CA590753221
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1948197654
gnomAD v2: 9-134391091-AACACTTCCTCACACGGAGCACTTCCTGTAACAGG-A
gnomAD v3: 9-131515704-AACACTTCCTCACACGGAGCACTTCCTGTAACAGG-A
gnomAD v4: 9-131515704-AACACTTCCTCACACGGAGCACTTCCTGTAACAGG-A
MyVariant Identifiers: chr9:g.134391118_134391180delinsCTAACATGGAGCACTTCCTGTAACACAGG (hg19) chr9:g.131515731_131515793delinsCTAACATGGAGCACTTCCTGTAACACAGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515731_131515764del , CM000671.2:g.131515731_131515764del GRCh38
NC_000009.11:g.134391118_134391151del , CM000671.1:g.134391118_134391151del GRCh37
NC_000009.10:g.133380939_133380972del NCBI36
NG_008896.1:g.17830_17863del
NG_008896.2:g.17830_17863del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+209_1110+242del ENSP00000343034.7:n.1110+209_1110+242del
ENST00000404875.7:n.1812+209_1812+242del
ENST00000423007.6:c.1329+209_1329+242del ENSP00000404119.2:n.1329+209_1329+242del
ENST00000677295.2:c.*1616+209_*1616+242del ENSP00000504346.2:n.*1616+209_*1616+242del
ENST00000678264.2:c.*1455+209_*1455+242del ENSP00000503157.2:n.*1455+209_*1455+242del
ENST00000682070.1:n.1737+209_1737+242del
ENST00000682539.1:c.97+209_97+242del
ENST00000682813.1:n.1537+209_1537+242del
ENST00000683392.1:n.4019+209_4019+242del
ENST00000683712.1:n.1677+209_1677+242del
ENST00000683900.1:n.3172+209_3172+242del
ENST00000684062.1:n.1938+209_1938+242del
ENST00000684579.1:n.3118+209_3118+242del
ENST00000341012.12:c.1110+209_1110+242del ENSP00000343034.7:n.1110+209_1110+242del
ENST00000372220.5:c.141+209_141+242del ENSP00000361294.5:n.141+209_141+242del
ENST00000372228.9:c.1338+209_1338+242del ENSP00000361302.3:n.1338+209_1338+242del
ENST00000402686.8:c.1272+209_1272+242del MANE Select ENSP00000385797.4:n.1272+209_1272+242del
ENST00000676640.1:c.1272+209_1272+242del ENSP00000503281.1:n.1272+209_1272+242del
ENST00000676803.1:c.447+209_447+242del ENSP00000503093.1:n.447+209_447+242del
ENST00000676835.1:c.*487+209_*487+242del ENSP00000502911.1:n.*487+209_*487+242del
ENST00000677029.1:c.816+209_816+242del ENSP00000502936.1:n.816+209_816+242del
ENST00000677099.1:c.*982+209_*982+242del ENSP00000504553.1:n.*982+209_*982+242del
ENST00000677216.1:c.921+209_921+242del ENSP00000503772.1:n.921+209_921+242del
ENST00000677295.1:c.*649+209_*649+242del ENSP00000504346.1:n.*649+209_*649+242del
ENST00000677444.1:c.1078+209_1078+242del
ENST00000677586.1:n.753+209_753+242del
ENST00000677626.1:c.921+209_921+242del ENSP00000503552.1:n.921+209_921+242del
ENST00000677677.1:n.1232+209_1232+242del
ENST00000677853.1:c.*280+209_*280+242del ENSP00000503488.1:n.*280+209_*280+242del
ENST00000677944.1:c.534+209_534+242del
ENST00000678264.1:c.*649+209_*649+242del ENSP00000503157.1:n.*649+209_*649+242del
ENST00000678303.1:c.1182+209_1182+242del ENSP00000503696.1:n.1182+209_1182+242del
ENST00000678366.1:c.*1521+209_*1521+242del ENSP00000504353.1:n.*1521+209_*1521+242del
ENST00000678546.1:c.*1217+209_*1217+242del ENSP00000503062.1:n.*1217+209_*1217+242del
ENST00000678548.1:c.*1344+209_*1344+242del ENSP00000503934.1:n.*1344+209_*1344+242del
ENST00000678626.1:n.969+209_969+242del
ENST00000678733.1:c.353+209_353+242del
ENST00000678739.1:c.*1598+209_*1598+242del ENSP00000503806.1:n.*1598+209_*1598+242del
ENST00000678795.1:n.359+209_359+242del
ENST00000678833.1:c.*719+209_*719+242del ENSP00000503893.1:n.*719+209_*719+242del
ENST00000678942.1:c.452+209_452+242del ENSP00000504690.1:n.452+209_452+242del
ENST00000679023.1:c.1110+209_1110+242del ENSP00000503718.1:n.1110+209_1110+242del
ENST00000679076.1:c.891+209_891+242del
ENST00000679111.1:c.1272+209_1272+242del ENSP00000504257.1:n.1272+209_1272+242del
ENST00000679189.1:c.921+209_921+242del ENSP00000503356.1:n.921+209_921+242del
ENST00000341012.11:c.1110+209_1110+242del ENSP00000343034.7:n.1110+209_1110+242del
ENST00000372228.7:c.1338+209_1338+242del ENSP00000361302.3:n.1338+209_1338+242del
ENST00000402686.7:c.1272+209_1272+242del ENSP00000385797.3:n.1272+209_1272+242del
ENST00000404875.6:c.921+209_921+242del ENSP00000384531.2:n.921+209_921+242del
ENST00000423007.5:c.1272+209_1272+242del ENSP00000404119.1:n.1272+209_1272+242del
ENST00000485278.5:n.1827+209_1827+242del
NM_001077365.1:c.1272+209_1272+242del NP_001070833.1:n.1272+209_1272+242del
NM_001077366.1:c.1110+209_1110+242del NP_001070834.1:n.1110+209_1110+242del
NM_001136113.1:c.1272+209_1272+242del NP_001129585.1:n.1272+209_1272+242del
NM_001136114.1:c.921+209_921+242del NP_001129586.1:n.921+209_921+242del
NM_007171.3:c.1338+209_1338+242del NP_009102.3:n.1338+209_1338+242del
XM_005272156.1:c.1338+209_1338+242del XP_005272213.1:n.1338+209_1338+242del
XM_005272158.1:c.1176+209_1176+242del XP_005272215.1:n.1176+209_1176+242del
XM_005272159.1:c.987+209_987+242del XP_005272216.1:n.987+209_987+242del
XM_005272162.1:c.141+209_141+242del XP_005272219.1:n.141+209_141+242del
XM_006716932.1:c.987+209_987+242del XP_006716995.1:n.987+209_987+242del
XM_011518140.1:c.1191+209_1191+242del XP_011516442.1:n.1191+209_1191+242del
XM_011518141.1:c.1125+209_1125+242del XP_011516443.1:n.1125+209_1125+242del
XM_011518142.1:c.1029+209_1029+242del XP_011516444.1:n.1029+209_1029+242del
XM_011518143.1:c.1023+209_1023+242del XP_011516445.1:n.1023+209_1023+242del
XM_011518144.1:c.1338+209_1338+242del XP_011516446.1:n.1338+209_1338+242del
XM_011518145.1:c.882+209_882+242del XP_011516447.1:n.882+209_882+242del
XM_011518146.1:c.1023+209_1023+242del XP_011516448.1:n.1023+209_1023+242del
XR_929703.1:n.1514+209_1514+242del
NM_001353193.1:c.1338+209_1338+242del NP_001340122.1:n.1338+209_1338+242del
NM_001353194.1:c.1110+209_1110+242del NP_001340123.1:n.1110+209_1110+242del
NM_001353195.1:c.921+209_921+242del NP_001340124.1:n.921+209_921+242del
NM_001353196.1:c.1182+209_1182+242del NP_001340125.1:n.1182+209_1182+242del
NM_001353197.1:c.1176+209_1176+242del NP_001340126.1:n.1176+209_1176+242del
NM_001353198.1:c.1176+209_1176+242del NP_001340127.1:n.1176+209_1176+242del
NM_001353199.1:c.987+209_987+242del NP_001340128.1:n.987+209_987+242del
NM_001353200.1:c.816+209_816+242del NP_001340129.1:n.816+209_816+242del
NR_148391.1:n.1322+209_1322+242del
NR_148392.1:n.1540+209_1540+242del
NR_148393.1:n.1322+209_1322+242del
NR_148394.1:n.1215+209_1215+242del
NR_148395.1:n.1474+209_1474+242del
NR_148396.1:n.1108+209_1108+242del
NR_148397.1:n.1372+209_1372+242del
NR_148398.1:n.1327+209_1327+242del
NR_148399.1:n.1714+209_1714+242del
NR_148400.1:n.1313+209_1313+242del
XM_005272162.3:c.141+209_141+242del XP_005272219.1:n.141+209_141+242del
XM_006716932.2:c.987+209_987+242del XP_006716995.1:n.987+209_987+242del
XM_011518140.2:c.1191+209_1191+242del XP_011516442.1:n.1191+209_1191+242del
XM_011518141.2:c.1125+209_1125+242del XP_011516443.1:n.1125+209_1125+242del
XM_011518142.2:c.1029+209_1029+242del XP_011516444.1:n.1029+209_1029+242del
XM_011518143.2:c.1023+209_1023+242del XP_011516445.1:n.1023+209_1023+242del
XM_011518145.2:c.882+209_882+242del XP_011516447.1:n.882+209_882+242del
XM_017014205.2:c.141+209_141+242del XP_016869694.1:n.141+209_141+242del
XM_024447380.1:c.141+209_141+242del XP_024303148.1:n.141+209_141+242del
XM_024447381.1:c.447+209_447+242del XP_024303149.1:n.447+209_447+242del
XM_024447382.1:c.141+209_141+242del XP_024303150.1:n.141+209_141+242del
XR_001746160.2:n.1442+209_1442+242del
XR_001746162.2:n.1508+209_1508+242del
XR_001746164.1:n.1225+209_1225+242del
XR_001746166.2:n.1659+209_1659+242del
NM_001077365.2:c.1272+209_1272+242del MANE Select NP_001070833.1:n.1272+209_1272+242del
NM_001077366.2:c.1110+209_1110+242del NP_001070834.1:n.1110+209_1110+242del
NM_001136113.2:c.1272+209_1272+242del NP_001129585.1:n.1272+209_1272+242del
NM_001136114.2:c.921+209_921+242del NP_001129586.1:n.921+209_921+242del
NM_001353193.2:c.1338+209_1338+242del NP_001340122.2:n.1338+209_1338+242del
NM_001353194.2:c.1110+209_1110+242del NP_001340123.1:n.1110+209_1110+242del
NM_001353195.2:c.921+209_921+242del NP_001340124.1:n.921+209_921+242del
NM_001353196.2:c.1182+209_1182+242del NP_001340125.1:n.1182+209_1182+242del
NM_001353197.2:c.1176+209_1176+242del NP_001340126.2:n.1176+209_1176+242del
NM_001353198.2:c.1176+209_1176+242del NP_001340127.2:n.1176+209_1176+242del
NM_001353199.2:c.987+209_987+242del NP_001340128.2:n.987+209_987+242del
NM_001353200.2:c.816+209_816+242del NP_001340129.1:n.816+209_816+242del
NM_001374689.1:c.1260+209_1260+242del NP_001361618.1:n.1260+209_1260+242del
NM_001374690.1:c.1272+209_1272+242del NP_001361619.1:n.1272+209_1272+242del
NM_001374691.1:c.921+209_921+242del NP_001361620.1:n.921+209_921+242del
NM_001374692.1:c.921+209_921+242del NP_001361621.1:n.921+209_921+242del
NM_001374693.1:c.921+209_921+242del NP_001361622.1:n.921+209_921+242del
NM_001374695.1:c.882+209_882+242del NP_001361624.1:n.882+209_882+242del
NM_007171.4:c.1338+209_1338+242del NP_009102.4:n.1338+209_1338+242del
NR_148391.2:n.1306+209_1306+242del
NR_148392.2:n.1524+209_1524+242del
NR_148393.2:n.1306+209_1306+242del
NR_148394.2:n.1199+209_1199+242del
NR_148395.2:n.1458+209_1458+242del
NR_148396.2:n.1092+209_1092+242del
NR_148397.2:n.1356+209_1356+242del
NR_148398.2:n.1311+209_1311+242del
NR_148399.2:n.1698+209_1698+242del
NR_148400.2:n.1297+209_1297+242del
Search 100 bp 5'
Search 100 bp 3'