Canonical Allele Identifier: CA590753267
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1564366930
gnomAD v2: 9-134391175-C-CACAGGACACTTCCTCACACGGAGCACTTCCTCTA
gnomAD v3: 9-131515788-C-CACAGGACACTTCCTCACACGGAGCACTTCCTCTA
gnomAD v4: 9-131515788-C-CACAGGACACTTCCTCACACGGAGCACTTCCTCTA
MyVariant Identifiers: chr9:g.134391175_134391176insACAGGACACTTCCTCACACGGAGCACTTCCTCTA (hg19) chr9:g.131515788_131515789insACAGGACACTTCCTCACACGGAGCACTTCCTCTA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515792_131515825dup , CM000671.2:g.131515792_131515825dup GRCh38
NC_000009.11:g.134391179_134391212dup , CM000671.1:g.134391179_134391212dup GRCh37
NC_000009.10:g.133381000_133381033dup NCBI36
NG_008896.1:g.17891_17924dup
NG_008896.2:g.17891_17924dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+270_1110+303dup ENSP00000343034.7:n.1110+270_1110+303dup
ENST00000404875.7:n.1812+270_1812+303dup
ENST00000423007.6:c.1329+270_1329+303dup ENSP00000404119.2:n.1329+270_1329+303dup
ENST00000677295.2:c.*1616+270_*1616+303dup ENSP00000504346.2:n.*1616+270_*1616+303dup
ENST00000678264.2:c.*1455+270_*1455+303dup ENSP00000503157.2:n.*1455+270_*1455+303dup
ENST00000682070.1:n.1737+270_1737+303dup
ENST00000682539.1:c.97+270_97+303dup
ENST00000682813.1:n.1537+270_1537+303dup
ENST00000683392.1:n.4019+270_4019+303dup
ENST00000683712.1:n.1677+270_1677+303dup
ENST00000683900.1:n.3172+270_3172+303dup
ENST00000684062.1:n.1938+270_1938+303dup
ENST00000684579.1:n.3118+270_3118+303dup
ENST00000341012.12:c.1110+270_1110+303dup ENSP00000343034.7:n.1110+270_1110+303dup
ENST00000372220.5:c.141+270_141+303dup ENSP00000361294.5:n.141+270_141+303dup
ENST00000372228.9:c.1338+270_1338+303dup ENSP00000361302.3:n.1338+270_1338+303dup
ENST00000402686.8:c.1272+270_1272+303dup MANE Select ENSP00000385797.4:n.1272+270_1272+303dup
ENST00000676640.1:c.1272+270_1272+303dup ENSP00000503281.1:n.1272+270_1272+303dup
ENST00000676803.1:c.447+270_447+303dup ENSP00000503093.1:n.447+270_447+303dup
ENST00000676835.1:c.*487+270_*487+303dup ENSP00000502911.1:n.*487+270_*487+303dup
ENST00000677029.1:c.816+270_816+303dup ENSP00000502936.1:n.816+270_816+303dup
ENST00000677099.1:c.*982+270_*982+303dup ENSP00000504553.1:n.*982+270_*982+303dup
ENST00000677216.1:c.921+270_921+303dup ENSP00000503772.1:n.921+270_921+303dup
ENST00000677295.1:c.*649+270_*649+303dup ENSP00000504346.1:n.*649+270_*649+303dup
ENST00000677444.1:c.1078+270_1078+303dup
ENST00000677586.1:n.753+270_753+303dup
ENST00000677626.1:c.921+270_921+303dup ENSP00000503552.1:n.921+270_921+303dup
ENST00000677677.1:n.1232+270_1232+303dup
ENST00000677853.1:c.*280+270_*280+303dup ENSP00000503488.1:n.*280+270_*280+303dup
ENST00000677944.1:c.534+270_534+303dup
ENST00000678264.1:c.*649+270_*649+303dup ENSP00000503157.1:n.*649+270_*649+303dup
ENST00000678303.1:c.1182+270_1182+303dup ENSP00000503696.1:n.1182+270_1182+303dup
ENST00000678366.1:c.*1521+270_*1521+303dup ENSP00000504353.1:n.*1521+270_*1521+303dup
ENST00000678546.1:c.*1217+270_*1217+303dup ENSP00000503062.1:n.*1217+270_*1217+303dup
ENST00000678548.1:c.*1344+270_*1344+303dup ENSP00000503934.1:n.*1344+270_*1344+303dup
ENST00000678626.1:n.969+270_969+303dup
ENST00000678733.1:c.353+270_353+303dup
ENST00000678739.1:c.*1598+270_*1598+303dup ENSP00000503806.1:n.*1598+270_*1598+303dup
ENST00000678795.1:n.359+270_359+303dup
ENST00000678833.1:c.*719+270_*719+303dup ENSP00000503893.1:n.*719+270_*719+303dup
ENST00000678942.1:c.452+270_452+303dup ENSP00000504690.1:n.452+270_452+303dup
ENST00000679023.1:c.1110+270_1110+303dup ENSP00000503718.1:n.1110+270_1110+303dup
ENST00000679076.1:c.891+270_891+303dup
ENST00000679111.1:c.1272+270_1272+303dup ENSP00000504257.1:n.1272+270_1272+303dup
ENST00000679189.1:c.921+270_921+303dup ENSP00000503356.1:n.921+270_921+303dup
ENST00000341012.11:c.1110+270_1110+303dup ENSP00000343034.7:n.1110+270_1110+303dup
ENST00000372228.7:c.1338+270_1338+303dup ENSP00000361302.3:n.1338+270_1338+303dup
ENST00000402686.7:c.1272+270_1272+303dup ENSP00000385797.3:n.1272+270_1272+303dup
ENST00000404875.6:c.921+270_921+303dup ENSP00000384531.2:n.921+270_921+303dup
ENST00000423007.5:c.1272+270_1272+303dup ENSP00000404119.1:n.1272+270_1272+303dup
ENST00000485278.5:n.1827+270_1827+303dup
NM_001077365.1:c.1272+270_1272+303dup NP_001070833.1:n.1272+270_1272+303dup
NM_001077366.1:c.1110+270_1110+303dup NP_001070834.1:n.1110+270_1110+303dup
NM_001136113.1:c.1272+270_1272+303dup NP_001129585.1:n.1272+270_1272+303dup
NM_001136114.1:c.921+270_921+303dup NP_001129586.1:n.921+270_921+303dup
NM_007171.3:c.1338+270_1338+303dup NP_009102.3:n.1338+270_1338+303dup
XM_005272156.1:c.1338+270_1338+303dup XP_005272213.1:n.1338+270_1338+303dup
XM_005272158.1:c.1176+270_1176+303dup XP_005272215.1:n.1176+270_1176+303dup
XM_005272159.1:c.987+270_987+303dup XP_005272216.1:n.987+270_987+303dup
XM_005272162.1:c.141+270_141+303dup XP_005272219.1:n.141+270_141+303dup
XM_006716932.1:c.987+270_987+303dup XP_006716995.1:n.987+270_987+303dup
XM_011518140.1:c.1191+270_1191+303dup XP_011516442.1:n.1191+270_1191+303dup
XM_011518141.1:c.1125+270_1125+303dup XP_011516443.1:n.1125+270_1125+303dup
XM_011518142.1:c.1029+270_1029+303dup XP_011516444.1:n.1029+270_1029+303dup
XM_011518143.1:c.1023+270_1023+303dup XP_011516445.1:n.1023+270_1023+303dup
XM_011518144.1:c.1338+270_1338+303dup XP_011516446.1:n.1338+270_1338+303dup
XM_011518145.1:c.882+270_882+303dup XP_011516447.1:n.882+270_882+303dup
XM_011518146.1:c.1023+270_1023+303dup XP_011516448.1:n.1023+270_1023+303dup
XR_929703.1:n.1514+270_1514+303dup
NM_001353193.1:c.1338+270_1338+303dup NP_001340122.1:n.1338+270_1338+303dup
NM_001353194.1:c.1110+270_1110+303dup NP_001340123.1:n.1110+270_1110+303dup
NM_001353195.1:c.921+270_921+303dup NP_001340124.1:n.921+270_921+303dup
NM_001353196.1:c.1182+270_1182+303dup NP_001340125.1:n.1182+270_1182+303dup
NM_001353197.1:c.1176+270_1176+303dup NP_001340126.1:n.1176+270_1176+303dup
NM_001353198.1:c.1176+270_1176+303dup NP_001340127.1:n.1176+270_1176+303dup
NM_001353199.1:c.987+270_987+303dup NP_001340128.1:n.987+270_987+303dup
NM_001353200.1:c.816+270_816+303dup NP_001340129.1:n.816+270_816+303dup
NR_148391.1:n.1322+270_1322+303dup
NR_148392.1:n.1540+270_1540+303dup
NR_148393.1:n.1322+270_1322+303dup
NR_148394.1:n.1215+270_1215+303dup
NR_148395.1:n.1474+270_1474+303dup
NR_148396.1:n.1108+270_1108+303dup
NR_148397.1:n.1372+270_1372+303dup
NR_148398.1:n.1327+270_1327+303dup
NR_148399.1:n.1714+270_1714+303dup
NR_148400.1:n.1313+270_1313+303dup
XM_005272162.3:c.141+270_141+303dup XP_005272219.1:n.141+270_141+303dup
XM_006716932.2:c.987+270_987+303dup XP_006716995.1:n.987+270_987+303dup
XM_011518140.2:c.1191+270_1191+303dup XP_011516442.1:n.1191+270_1191+303dup
XM_011518141.2:c.1125+270_1125+303dup XP_011516443.1:n.1125+270_1125+303dup
XM_011518142.2:c.1029+270_1029+303dup XP_011516444.1:n.1029+270_1029+303dup
XM_011518143.2:c.1023+270_1023+303dup XP_011516445.1:n.1023+270_1023+303dup
XM_011518145.2:c.882+270_882+303dup XP_011516447.1:n.882+270_882+303dup
XM_017014205.2:c.141+270_141+303dup XP_016869694.1:n.141+270_141+303dup
XM_024447380.1:c.141+270_141+303dup XP_024303148.1:n.141+270_141+303dup
XM_024447381.1:c.447+270_447+303dup XP_024303149.1:n.447+270_447+303dup
XM_024447382.1:c.141+270_141+303dup XP_024303150.1:n.141+270_141+303dup
XR_001746160.2:n.1442+270_1442+303dup
XR_001746162.2:n.1508+270_1508+303dup
XR_001746164.1:n.1225+270_1225+303dup
XR_001746166.2:n.1659+270_1659+303dup
NM_001077365.2:c.1272+270_1272+303dup MANE Select NP_001070833.1:n.1272+270_1272+303dup
NM_001077366.2:c.1110+270_1110+303dup NP_001070834.1:n.1110+270_1110+303dup
NM_001136113.2:c.1272+270_1272+303dup NP_001129585.1:n.1272+270_1272+303dup
NM_001136114.2:c.921+270_921+303dup NP_001129586.1:n.921+270_921+303dup
NM_001353193.2:c.1338+270_1338+303dup NP_001340122.2:n.1338+270_1338+303dup
NM_001353194.2:c.1110+270_1110+303dup NP_001340123.1:n.1110+270_1110+303dup
NM_001353195.2:c.921+270_921+303dup NP_001340124.1:n.921+270_921+303dup
NM_001353196.2:c.1182+270_1182+303dup NP_001340125.1:n.1182+270_1182+303dup
NM_001353197.2:c.1176+270_1176+303dup NP_001340126.2:n.1176+270_1176+303dup
NM_001353198.2:c.1176+270_1176+303dup NP_001340127.2:n.1176+270_1176+303dup
NM_001353199.2:c.987+270_987+303dup NP_001340128.2:n.987+270_987+303dup
NM_001353200.2:c.816+270_816+303dup NP_001340129.1:n.816+270_816+303dup
NM_001374689.1:c.1260+270_1260+303dup NP_001361618.1:n.1260+270_1260+303dup
NM_001374690.1:c.1272+270_1272+303dup NP_001361619.1:n.1272+270_1272+303dup
NM_001374691.1:c.921+270_921+303dup NP_001361620.1:n.921+270_921+303dup
NM_001374692.1:c.921+270_921+303dup NP_001361621.1:n.921+270_921+303dup
NM_001374693.1:c.921+270_921+303dup NP_001361622.1:n.921+270_921+303dup
NM_001374695.1:c.882+270_882+303dup NP_001361624.1:n.882+270_882+303dup
NM_007171.4:c.1338+270_1338+303dup NP_009102.4:n.1338+270_1338+303dup
NR_148391.2:n.1306+270_1306+303dup
NR_148392.2:n.1524+270_1524+303dup
NR_148393.2:n.1306+270_1306+303dup
NR_148394.2:n.1199+270_1199+303dup
NR_148395.2:n.1458+270_1458+303dup
NR_148396.2:n.1092+270_1092+303dup
NR_148397.2:n.1356+270_1356+303dup
NR_148398.2:n.1311+270_1311+303dup
NR_148399.2:n.1698+270_1698+303dup
NR_148400.2:n.1297+270_1297+303dup
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