Canonical Allele Identifier: CA860553067
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1392401237
gnomAD v3: 9-131515637-TTCA-T
gnomAD v4: 9-131515637-TTCA-T
MyVariant Identifiers: chr9:g.134391025_134391027del (hg19) chr9:g.131515638_131515640del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515641_131515643del , CM000671.2:g.131515641_131515643del GRCh38
NC_000009.11:g.134391028_134391030del , CM000671.1:g.134391028_134391030del GRCh37
NC_000009.10:g.133380849_133380851del NCBI36
NG_008896.1:g.17740_17742del
NG_008896.2:g.17740_17742del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+119_1110+121del ENSP00000343034.7:n.1110+119_1110+121del
ENST00000404875.7:n.1812+119_1812+121del
ENST00000423007.6:c.1329+119_1329+121del ENSP00000404119.2:n.1329+119_1329+121del
ENST00000677295.2:c.*1616+119_*1616+121del ENSP00000504346.2:n.*1616+119_*1616+121del
ENST00000678264.2:c.*1455+119_*1455+121del ENSP00000503157.2:n.*1455+119_*1455+121del
ENST00000682070.1:n.1737+119_1737+121del
ENST00000682539.1:c.97+119_97+121del
ENST00000682813.1:n.1537+119_1537+121del
ENST00000683392.1:n.4019+119_4019+121del
ENST00000683712.1:n.1677+119_1677+121del
ENST00000683900.1:n.3172+119_3172+121del
ENST00000684062.1:n.1938+119_1938+121del
ENST00000684579.1:n.3118+119_3118+121del
ENST00000341012.12:c.1110+119_1110+121del ENSP00000343034.7:n.1110+119_1110+121del
ENST00000372220.5:c.141+119_141+121del ENSP00000361294.5:n.141+119_141+121del
ENST00000372228.9:c.1338+119_1338+121del ENSP00000361302.3:n.1338+119_1338+121del
ENST00000402686.8:c.1272+119_1272+121del MANE Select ENSP00000385797.4:n.1272+119_1272+121del
ENST00000676640.1:c.1272+119_1272+121del ENSP00000503281.1:n.1272+119_1272+121del
ENST00000676803.1:c.447+119_447+121del ENSP00000503093.1:n.447+119_447+121del
ENST00000676835.1:c.*487+119_*487+121del ENSP00000502911.1:n.*487+119_*487+121del
ENST00000677029.1:c.816+119_816+121del ENSP00000502936.1:n.816+119_816+121del
ENST00000677099.1:c.*982+119_*982+121del ENSP00000504553.1:n.*982+119_*982+121del
ENST00000677216.1:c.921+119_921+121del ENSP00000503772.1:n.921+119_921+121del
ENST00000677295.1:c.*649+119_*649+121del ENSP00000504346.1:n.*649+119_*649+121del
ENST00000677444.1:c.1078+119_1078+121del
ENST00000677586.1:n.753+119_753+121del
ENST00000677626.1:c.921+119_921+121del ENSP00000503552.1:n.921+119_921+121del
ENST00000677677.1:n.1232+119_1232+121del
ENST00000677853.1:c.*280+119_*280+121del ENSP00000503488.1:n.*280+119_*280+121del
ENST00000677944.1:c.534+119_534+121del
ENST00000678264.1:c.*649+119_*649+121del ENSP00000503157.1:n.*649+119_*649+121del
ENST00000678303.1:c.1182+119_1182+121del ENSP00000503696.1:n.1182+119_1182+121del
ENST00000678366.1:c.*1521+119_*1521+121del ENSP00000504353.1:n.*1521+119_*1521+121del
ENST00000678546.1:c.*1217+119_*1217+121del ENSP00000503062.1:n.*1217+119_*1217+121del
ENST00000678548.1:c.*1344+119_*1344+121del ENSP00000503934.1:n.*1344+119_*1344+121del
ENST00000678626.1:n.969+119_969+121del
ENST00000678733.1:c.353+119_353+121del
ENST00000678739.1:c.*1598+119_*1598+121del ENSP00000503806.1:n.*1598+119_*1598+121del
ENST00000678795.1:n.359+119_359+121del
ENST00000678833.1:c.*719+119_*719+121del ENSP00000503893.1:n.*719+119_*719+121del
ENST00000678942.1:c.452+119_452+121del ENSP00000504690.1:n.452+119_452+121del
ENST00000679023.1:c.1110+119_1110+121del ENSP00000503718.1:n.1110+119_1110+121del
ENST00000679076.1:c.891+119_891+121del
ENST00000679111.1:c.1272+119_1272+121del ENSP00000504257.1:n.1272+119_1272+121del
ENST00000679189.1:c.921+119_921+121del ENSP00000503356.1:n.921+119_921+121del
ENST00000341012.11:c.1110+119_1110+121del ENSP00000343034.7:n.1110+119_1110+121del
ENST00000372228.7:c.1338+119_1338+121del ENSP00000361302.3:n.1338+119_1338+121del
ENST00000402686.7:c.1272+119_1272+121del ENSP00000385797.3:n.1272+119_1272+121del
ENST00000404875.6:c.921+119_921+121del ENSP00000384531.2:n.921+119_921+121del
ENST00000423007.5:c.1272+119_1272+121del ENSP00000404119.1:n.1272+119_1272+121del
ENST00000485278.5:n.1827+119_1827+121del
NM_001077365.1:c.1272+119_1272+121del NP_001070833.1:n.1272+119_1272+121del
NM_001077366.1:c.1110+119_1110+121del NP_001070834.1:n.1110+119_1110+121del
NM_001136113.1:c.1272+119_1272+121del NP_001129585.1:n.1272+119_1272+121del
NM_001136114.1:c.921+119_921+121del NP_001129586.1:n.921+119_921+121del
NM_007171.3:c.1338+119_1338+121del NP_009102.3:n.1338+119_1338+121del
XM_005272156.1:c.1338+119_1338+121del XP_005272213.1:n.1338+119_1338+121del
XM_005272158.1:c.1176+119_1176+121del XP_005272215.1:n.1176+119_1176+121del
XM_005272159.1:c.987+119_987+121del XP_005272216.1:n.987+119_987+121del
XM_005272162.1:c.141+119_141+121del XP_005272219.1:n.141+119_141+121del
XM_006716932.1:c.987+119_987+121del XP_006716995.1:n.987+119_987+121del
XM_011518140.1:c.1191+119_1191+121del XP_011516442.1:n.1191+119_1191+121del
XM_011518141.1:c.1125+119_1125+121del XP_011516443.1:n.1125+119_1125+121del
XM_011518142.1:c.1029+119_1029+121del XP_011516444.1:n.1029+119_1029+121del
XM_011518143.1:c.1023+119_1023+121del XP_011516445.1:n.1023+119_1023+121del
XM_011518144.1:c.1338+119_1338+121del XP_011516446.1:n.1338+119_1338+121del
XM_011518145.1:c.882+119_882+121del XP_011516447.1:n.882+119_882+121del
XM_011518146.1:c.1023+119_1023+121del XP_011516448.1:n.1023+119_1023+121del
XR_929703.1:n.1514+119_1514+121del
NM_001353193.1:c.1338+119_1338+121del NP_001340122.1:n.1338+119_1338+121del
NM_001353194.1:c.1110+119_1110+121del NP_001340123.1:n.1110+119_1110+121del
NM_001353195.1:c.921+119_921+121del NP_001340124.1:n.921+119_921+121del
NM_001353196.1:c.1182+119_1182+121del NP_001340125.1:n.1182+119_1182+121del
NM_001353197.1:c.1176+119_1176+121del NP_001340126.1:n.1176+119_1176+121del
NM_001353198.1:c.1176+119_1176+121del NP_001340127.1:n.1176+119_1176+121del
NM_001353199.1:c.987+119_987+121del NP_001340128.1:n.987+119_987+121del
NM_001353200.1:c.816+119_816+121del NP_001340129.1:n.816+119_816+121del
NR_148391.1:n.1322+119_1322+121del
NR_148392.1:n.1540+119_1540+121del
NR_148393.1:n.1322+119_1322+121del
NR_148394.1:n.1215+119_1215+121del
NR_148395.1:n.1474+119_1474+121del
NR_148396.1:n.1108+119_1108+121del
NR_148397.1:n.1372+119_1372+121del
NR_148398.1:n.1327+119_1327+121del
NR_148399.1:n.1714+119_1714+121del
NR_148400.1:n.1313+119_1313+121del
XM_005272162.3:c.141+119_141+121del XP_005272219.1:n.141+119_141+121del
XM_006716932.2:c.987+119_987+121del XP_006716995.1:n.987+119_987+121del
XM_011518140.2:c.1191+119_1191+121del XP_011516442.1:n.1191+119_1191+121del
XM_011518141.2:c.1125+119_1125+121del XP_011516443.1:n.1125+119_1125+121del
XM_011518142.2:c.1029+119_1029+121del XP_011516444.1:n.1029+119_1029+121del
XM_011518143.2:c.1023+119_1023+121del XP_011516445.1:n.1023+119_1023+121del
XM_011518145.2:c.882+119_882+121del XP_011516447.1:n.882+119_882+121del
XM_017014205.2:c.141+119_141+121del XP_016869694.1:n.141+119_141+121del
XM_024447380.1:c.141+119_141+121del XP_024303148.1:n.141+119_141+121del
XM_024447381.1:c.447+119_447+121del XP_024303149.1:n.447+119_447+121del
XM_024447382.1:c.141+119_141+121del XP_024303150.1:n.141+119_141+121del
XR_001746160.2:n.1442+119_1442+121del
XR_001746162.2:n.1508+119_1508+121del
XR_001746164.1:n.1225+119_1225+121del
XR_001746166.2:n.1659+119_1659+121del
NM_001077365.2:c.1272+119_1272+121del MANE Select NP_001070833.1:n.1272+119_1272+121del
NM_001077366.2:c.1110+119_1110+121del NP_001070834.1:n.1110+119_1110+121del
NM_001136113.2:c.1272+119_1272+121del NP_001129585.1:n.1272+119_1272+121del
NM_001136114.2:c.921+119_921+121del NP_001129586.1:n.921+119_921+121del
NM_001353193.2:c.1338+119_1338+121del NP_001340122.2:n.1338+119_1338+121del
NM_001353194.2:c.1110+119_1110+121del NP_001340123.1:n.1110+119_1110+121del
NM_001353195.2:c.921+119_921+121del NP_001340124.1:n.921+119_921+121del
NM_001353196.2:c.1182+119_1182+121del NP_001340125.1:n.1182+119_1182+121del
NM_001353197.2:c.1176+119_1176+121del NP_001340126.2:n.1176+119_1176+121del
NM_001353198.2:c.1176+119_1176+121del NP_001340127.2:n.1176+119_1176+121del
NM_001353199.2:c.987+119_987+121del NP_001340128.2:n.987+119_987+121del
NM_001353200.2:c.816+119_816+121del NP_001340129.1:n.816+119_816+121del
NM_001374689.1:c.1260+119_1260+121del NP_001361618.1:n.1260+119_1260+121del
NM_001374690.1:c.1272+119_1272+121del NP_001361619.1:n.1272+119_1272+121del
NM_001374691.1:c.921+119_921+121del NP_001361620.1:n.921+119_921+121del
NM_001374692.1:c.921+119_921+121del NP_001361621.1:n.921+119_921+121del
NM_001374693.1:c.921+119_921+121del NP_001361622.1:n.921+119_921+121del
NM_001374695.1:c.882+119_882+121del NP_001361624.1:n.882+119_882+121del
NM_007171.4:c.1338+119_1338+121del NP_009102.4:n.1338+119_1338+121del
NR_148391.2:n.1306+119_1306+121del
NR_148392.2:n.1524+119_1524+121del
NR_148393.2:n.1306+119_1306+121del
NR_148394.2:n.1199+119_1199+121del
NR_148395.2:n.1458+119_1458+121del
NR_148396.2:n.1092+119_1092+121del
NR_148397.2:n.1356+119_1356+121del
NR_148398.2:n.1311+119_1311+121del
NR_148399.2:n.1698+119_1698+121del
NR_148400.2:n.1297+119_1297+121del
Search 100 bp 5'
Search 100 bp 3'