Canonical Allele Identifier: CA1129597536
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v3: 9-131515755-AGCACTTCCTCTAACATGGAGCACTTCCTGTAACACAGGACACTTCCTCACACG-A
gnomAD v4: 9-131515755-AGCACTTCCTCTAACATGGAGCACTTCCTGTAACACAGGACACTTCCTCACACG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515757_131515809del , CM000671.2:g.131515757_131515809del GRCh38
NC_000009.11:g.134391144_134391196del , CM000671.1:g.134391144_134391196del GRCh37
NC_000009.10:g.133380965_133381017del NCBI36
NG_008896.1:g.17856_17908del
NG_008896.2:g.17856_17908del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+235_1110+287del ENSP00000343034.7:n.1110+235_1110+287del
ENST00000404875.7:n.1812+235_1812+287del
ENST00000423007.6:c.1329+235_1329+287del ENSP00000404119.2:n.1329+235_1329+287del
ENST00000677295.2:c.*1616+235_*1616+287del ENSP00000504346.2:n.*1616+235_*1616+287del
ENST00000678264.2:c.*1455+235_*1455+287del ENSP00000503157.2:n.*1455+235_*1455+287del
ENST00000682070.1:n.1737+235_1737+287del
ENST00000682539.1:c.97+235_97+287del
ENST00000682813.1:n.1537+235_1537+287del
ENST00000683392.1:n.4019+235_4019+287del
ENST00000683712.1:n.1677+235_1677+287del
ENST00000683900.1:n.3172+235_3172+287del
ENST00000684062.1:n.1938+235_1938+287del
ENST00000684579.1:n.3118+235_3118+287del
ENST00000341012.12:c.1110+235_1110+287del ENSP00000343034.7:n.1110+235_1110+287del
ENST00000372220.5:c.141+235_141+287del ENSP00000361294.5:n.141+235_141+287del
ENST00000372228.9:c.1338+235_1338+287del ENSP00000361302.3:n.1338+235_1338+287del
ENST00000402686.8:c.1272+235_1272+287del MANE Select ENSP00000385797.4:n.1272+235_1272+287del
ENST00000676640.1:c.1272+235_1272+287del ENSP00000503281.1:n.1272+235_1272+287del
ENST00000676803.1:c.447+235_447+287del ENSP00000503093.1:n.447+235_447+287del
ENST00000676835.1:c.*487+235_*487+287del ENSP00000502911.1:n.*487+235_*487+287del
ENST00000677029.1:c.816+235_816+287del ENSP00000502936.1:n.816+235_816+287del
ENST00000677099.1:c.*982+235_*982+287del ENSP00000504553.1:n.*982+235_*982+287del
ENST00000677216.1:c.921+235_921+287del ENSP00000503772.1:n.921+235_921+287del
ENST00000677295.1:c.*649+235_*649+287del ENSP00000504346.1:n.*649+235_*649+287del
ENST00000677444.1:c.1078+235_1078+287del
ENST00000677586.1:n.753+235_753+287del
ENST00000677626.1:c.921+235_921+287del ENSP00000503552.1:n.921+235_921+287del
ENST00000677677.1:n.1232+235_1232+287del
ENST00000677853.1:c.*280+235_*280+287del ENSP00000503488.1:n.*280+235_*280+287del
ENST00000677944.1:c.534+235_534+287del
ENST00000678264.1:c.*649+235_*649+287del ENSP00000503157.1:n.*649+235_*649+287del
ENST00000678303.1:c.1182+235_1182+287del ENSP00000503696.1:n.1182+235_1182+287del
ENST00000678366.1:c.*1521+235_*1521+287del ENSP00000504353.1:n.*1521+235_*1521+287del
ENST00000678546.1:c.*1217+235_*1217+287del ENSP00000503062.1:n.*1217+235_*1217+287del
ENST00000678548.1:c.*1344+235_*1344+287del ENSP00000503934.1:n.*1344+235_*1344+287del
ENST00000678626.1:n.969+235_969+287del
ENST00000678733.1:c.353+235_353+287del
ENST00000678739.1:c.*1598+235_*1598+287del ENSP00000503806.1:n.*1598+235_*1598+287del
ENST00000678795.1:n.359+235_359+287del
ENST00000678833.1:c.*719+235_*719+287del ENSP00000503893.1:n.*719+235_*719+287del
ENST00000678942.1:c.452+235_452+287del ENSP00000504690.1:n.452+235_452+287del
ENST00000679023.1:c.1110+235_1110+287del ENSP00000503718.1:n.1110+235_1110+287del
ENST00000679076.1:c.891+235_891+287del
ENST00000679111.1:c.1272+235_1272+287del ENSP00000504257.1:n.1272+235_1272+287del
ENST00000679189.1:c.921+235_921+287del ENSP00000503356.1:n.921+235_921+287del
ENST00000341012.11:c.1110+235_1110+287del ENSP00000343034.7:n.1110+235_1110+287del
ENST00000372228.7:c.1338+235_1338+287del ENSP00000361302.3:n.1338+235_1338+287del
ENST00000402686.7:c.1272+235_1272+287del ENSP00000385797.3:n.1272+235_1272+287del
ENST00000404875.6:c.921+235_921+287del ENSP00000384531.2:n.921+235_921+287del
ENST00000423007.5:c.1272+235_1272+287del ENSP00000404119.1:n.1272+235_1272+287del
ENST00000485278.5:n.1827+235_1827+287del
NM_001077365.1:c.1272+235_1272+287del NP_001070833.1:n.1272+235_1272+287del
NM_001077366.1:c.1110+235_1110+287del NP_001070834.1:n.1110+235_1110+287del
NM_001136113.1:c.1272+235_1272+287del NP_001129585.1:n.1272+235_1272+287del
NM_001136114.1:c.921+235_921+287del NP_001129586.1:n.921+235_921+287del
NM_007171.3:c.1338+235_1338+287del NP_009102.3:n.1338+235_1338+287del
XM_005272156.1:c.1338+235_1338+287del XP_005272213.1:n.1338+235_1338+287del
XM_005272158.1:c.1176+235_1176+287del XP_005272215.1:n.1176+235_1176+287del
XM_005272159.1:c.987+235_987+287del XP_005272216.1:n.987+235_987+287del
XM_005272162.1:c.141+235_141+287del XP_005272219.1:n.141+235_141+287del
XM_006716932.1:c.987+235_987+287del XP_006716995.1:n.987+235_987+287del
XM_011518140.1:c.1191+235_1191+287del XP_011516442.1:n.1191+235_1191+287del
XM_011518141.1:c.1125+235_1125+287del XP_011516443.1:n.1125+235_1125+287del
XM_011518142.1:c.1029+235_1029+287del XP_011516444.1:n.1029+235_1029+287del
XM_011518143.1:c.1023+235_1023+287del XP_011516445.1:n.1023+235_1023+287del
XM_011518144.1:c.1338+235_1338+287del XP_011516446.1:n.1338+235_1338+287del
XM_011518145.1:c.882+235_882+287del XP_011516447.1:n.882+235_882+287del
XM_011518146.1:c.1023+235_1023+287del XP_011516448.1:n.1023+235_1023+287del
XR_929703.1:n.1514+235_1514+287del
NM_001353193.1:c.1338+235_1338+287del NP_001340122.1:n.1338+235_1338+287del
NM_001353194.1:c.1110+235_1110+287del NP_001340123.1:n.1110+235_1110+287del
NM_001353195.1:c.921+235_921+287del NP_001340124.1:n.921+235_921+287del
NM_001353196.1:c.1182+235_1182+287del NP_001340125.1:n.1182+235_1182+287del
NM_001353197.1:c.1176+235_1176+287del NP_001340126.1:n.1176+235_1176+287del
NM_001353198.1:c.1176+235_1176+287del NP_001340127.1:n.1176+235_1176+287del
NM_001353199.1:c.987+235_987+287del NP_001340128.1:n.987+235_987+287del
NM_001353200.1:c.816+235_816+287del NP_001340129.1:n.816+235_816+287del
NR_148391.1:n.1322+235_1322+287del
NR_148392.1:n.1540+235_1540+287del
NR_148393.1:n.1322+235_1322+287del
NR_148394.1:n.1215+235_1215+287del
NR_148395.1:n.1474+235_1474+287del
NR_148396.1:n.1108+235_1108+287del
NR_148397.1:n.1372+235_1372+287del
NR_148398.1:n.1327+235_1327+287del
NR_148399.1:n.1714+235_1714+287del
NR_148400.1:n.1313+235_1313+287del
XM_005272162.3:c.141+235_141+287del XP_005272219.1:n.141+235_141+287del
XM_006716932.2:c.987+235_987+287del XP_006716995.1:n.987+235_987+287del
XM_011518140.2:c.1191+235_1191+287del XP_011516442.1:n.1191+235_1191+287del
XM_011518141.2:c.1125+235_1125+287del XP_011516443.1:n.1125+235_1125+287del
XM_011518142.2:c.1029+235_1029+287del XP_011516444.1:n.1029+235_1029+287del
XM_011518143.2:c.1023+235_1023+287del XP_011516445.1:n.1023+235_1023+287del
XM_011518145.2:c.882+235_882+287del XP_011516447.1:n.882+235_882+287del
XM_017014205.2:c.141+235_141+287del XP_016869694.1:n.141+235_141+287del
XM_024447380.1:c.141+235_141+287del XP_024303148.1:n.141+235_141+287del
XM_024447381.1:c.447+235_447+287del XP_024303149.1:n.447+235_447+287del
XM_024447382.1:c.141+235_141+287del XP_024303150.1:n.141+235_141+287del
XR_001746160.2:n.1442+235_1442+287del
XR_001746162.2:n.1508+235_1508+287del
XR_001746164.1:n.1225+235_1225+287del
XR_001746166.2:n.1659+235_1659+287del
NM_001077365.2:c.1272+235_1272+287del MANE Select NP_001070833.1:n.1272+235_1272+287del
NM_001077366.2:c.1110+235_1110+287del NP_001070834.1:n.1110+235_1110+287del
NM_001136113.2:c.1272+235_1272+287del NP_001129585.1:n.1272+235_1272+287del
NM_001136114.2:c.921+235_921+287del NP_001129586.1:n.921+235_921+287del
NM_001353193.2:c.1338+235_1338+287del NP_001340122.2:n.1338+235_1338+287del
NM_001353194.2:c.1110+235_1110+287del NP_001340123.1:n.1110+235_1110+287del
NM_001353195.2:c.921+235_921+287del NP_001340124.1:n.921+235_921+287del
NM_001353196.2:c.1182+235_1182+287del NP_001340125.1:n.1182+235_1182+287del
NM_001353197.2:c.1176+235_1176+287del NP_001340126.2:n.1176+235_1176+287del
NM_001353198.2:c.1176+235_1176+287del NP_001340127.2:n.1176+235_1176+287del
NM_001353199.2:c.987+235_987+287del NP_001340128.2:n.987+235_987+287del
NM_001353200.2:c.816+235_816+287del NP_001340129.1:n.816+235_816+287del
NM_001374689.1:c.1260+235_1260+287del NP_001361618.1:n.1260+235_1260+287del
NM_001374690.1:c.1272+235_1272+287del NP_001361619.1:n.1272+235_1272+287del
NM_001374691.1:c.921+235_921+287del NP_001361620.1:n.921+235_921+287del
NM_001374692.1:c.921+235_921+287del NP_001361621.1:n.921+235_921+287del
NM_001374693.1:c.921+235_921+287del NP_001361622.1:n.921+235_921+287del
NM_001374695.1:c.882+235_882+287del NP_001361624.1:n.882+235_882+287del
NM_007171.4:c.1338+235_1338+287del NP_009102.4:n.1338+235_1338+287del
NR_148391.2:n.1306+235_1306+287del
NR_148392.2:n.1524+235_1524+287del
NR_148393.2:n.1306+235_1306+287del
NR_148394.2:n.1199+235_1199+287del
NR_148395.2:n.1458+235_1458+287del
NR_148396.2:n.1092+235_1092+287del
NR_148397.2:n.1356+235_1356+287del
NR_148398.2:n.1311+235_1311+287del
NR_148399.2:n.1698+235_1698+287del
NR_148400.2:n.1297+235_1297+287del
Search 100 bp 5'
Search 100 bp 3'