Canonical Allele Identifier: CA1129597520
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v3: 9-131515748-CACACGGAGCACTTCCTCTAACATGGAGCACTTCCTGTAACACAGGACACTTCCTCACACGGAGCACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACAGGGAGCACTTT-C
gnomAD v4: 9-131515748-CACACGGAGCACTTCCTCTAACATGGAGCACTTCCTGTAACACAGGACACTTCCTCACACGGAGCACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACAGGGAGCACTTT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515749_131515870del , CM000671.2:g.131515749_131515870del GRCh38
NC_000009.11:g.134391136_134391257del , CM000671.1:g.134391136_134391257del GRCh37
NC_000009.10:g.133380957_133381078del NCBI36
NG_008896.1:g.17848_17969del
NG_008896.2:g.17848_17969del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+227_1110+348del ENSP00000343034.7:n.1110+227_1110+348del
ENST00000404875.7:n.1812+227_1812+348del
ENST00000423007.6:c.1329+227_1329+348del ENSP00000404119.2:n.1329+227_1329+348del
ENST00000677295.2:c.*1616+227_*1616+348del ENSP00000504346.2:n.*1616+227_*1616+348del
ENST00000678264.2:c.*1455+227_*1455+348del ENSP00000503157.2:n.*1455+227_*1455+348del
ENST00000682070.1:n.1737+227_1737+348del
ENST00000682539.1:c.97+227_97+348del
ENST00000682813.1:n.1537+227_1537+348del
ENST00000683392.1:n.4019+227_4019+348del
ENST00000683712.1:n.1677+227_1677+348del
ENST00000683900.1:n.3172+227_3172+348del
ENST00000684062.1:n.1938+227_1938+348del
ENST00000684579.1:n.3118+227_3118+348del
ENST00000341012.12:c.1110+227_1110+348del ENSP00000343034.7:n.1110+227_1110+348del
ENST00000372220.5:c.141+227_141+348del ENSP00000361294.5:n.141+227_141+348del
ENST00000372228.9:c.1338+227_1338+348del ENSP00000361302.3:n.1338+227_1338+348del
ENST00000402686.8:c.1272+227_1272+348del MANE Select ENSP00000385797.4:n.1272+227_1272+348del
ENST00000676640.1:c.1272+227_1272+348del ENSP00000503281.1:n.1272+227_1272+348del
ENST00000676803.1:c.447+227_447+348del ENSP00000503093.1:n.447+227_447+348del
ENST00000676835.1:c.*487+227_*487+348del ENSP00000502911.1:n.*487+227_*487+348del
ENST00000677029.1:c.816+227_816+348del ENSP00000502936.1:n.816+227_816+348del
ENST00000677099.1:c.*982+227_*982+348del ENSP00000504553.1:n.*982+227_*982+348del
ENST00000677216.1:c.921+227_921+348del ENSP00000503772.1:n.921+227_921+348del
ENST00000677295.1:c.*649+227_*649+348del ENSP00000504346.1:n.*649+227_*649+348del
ENST00000677444.1:c.1078+227_1078+348del
ENST00000677586.1:n.753+227_753+348del
ENST00000677626.1:c.921+227_921+348del ENSP00000503552.1:n.921+227_921+348del
ENST00000677677.1:n.1232+227_1232+348del
ENST00000677853.1:c.*280+227_*280+348del ENSP00000503488.1:n.*280+227_*280+348del
ENST00000677944.1:c.534+227_534+348del
ENST00000678264.1:c.*649+227_*649+348del ENSP00000503157.1:n.*649+227_*649+348del
ENST00000678303.1:c.1182+227_1182+348del ENSP00000503696.1:n.1182+227_1182+348del
ENST00000678366.1:c.*1521+227_*1521+348del ENSP00000504353.1:n.*1521+227_*1521+348del
ENST00000678546.1:c.*1217+227_*1217+348del ENSP00000503062.1:n.*1217+227_*1217+348del
ENST00000678548.1:c.*1344+227_*1344+348del ENSP00000503934.1:n.*1344+227_*1344+348del
ENST00000678626.1:n.969+227_969+348del
ENST00000678733.1:c.353+227_353+348del
ENST00000678739.1:c.*1598+227_*1598+348del ENSP00000503806.1:n.*1598+227_*1598+348del
ENST00000678795.1:n.359+227_359+348del
ENST00000678833.1:c.*719+227_*719+348del ENSP00000503893.1:n.*719+227_*719+348del
ENST00000678942.1:c.452+227_452+348del ENSP00000504690.1:n.452+227_452+348del
ENST00000679023.1:c.1110+227_1110+348del ENSP00000503718.1:n.1110+227_1110+348del
ENST00000679076.1:c.891+227_891+348del
ENST00000679111.1:c.1272+227_1272+348del ENSP00000504257.1:n.1272+227_1272+348del
ENST00000679189.1:c.921+227_921+348del ENSP00000503356.1:n.921+227_921+348del
ENST00000341012.11:c.1110+227_1110+348del ENSP00000343034.7:n.1110+227_1110+348del
ENST00000372228.7:c.1338+227_1338+348del ENSP00000361302.3:n.1338+227_1338+348del
ENST00000402686.7:c.1272+227_1272+348del ENSP00000385797.3:n.1272+227_1272+348del
ENST00000404875.6:c.921+227_921+348del ENSP00000384531.2:n.921+227_921+348del
ENST00000423007.5:c.1272+227_1272+348del ENSP00000404119.1:n.1272+227_1272+348del
ENST00000485278.5:n.1827+227_1827+348del
NM_001077365.1:c.1272+227_1272+348del NP_001070833.1:n.1272+227_1272+348del
NM_001077366.1:c.1110+227_1110+348del NP_001070834.1:n.1110+227_1110+348del
NM_001136113.1:c.1272+227_1272+348del NP_001129585.1:n.1272+227_1272+348del
NM_001136114.1:c.921+227_921+348del NP_001129586.1:n.921+227_921+348del
NM_007171.3:c.1338+227_1338+348del NP_009102.3:n.1338+227_1338+348del
XM_005272156.1:c.1338+227_1338+348del XP_005272213.1:n.1338+227_1338+348del
XM_005272158.1:c.1176+227_1176+348del XP_005272215.1:n.1176+227_1176+348del
XM_005272159.1:c.987+227_987+348del XP_005272216.1:n.987+227_987+348del
XM_005272162.1:c.141+227_141+348del XP_005272219.1:n.141+227_141+348del
XM_006716932.1:c.987+227_987+348del XP_006716995.1:n.987+227_987+348del
XM_011518140.1:c.1191+227_1191+348del XP_011516442.1:n.1191+227_1191+348del
XM_011518141.1:c.1125+227_1125+348del XP_011516443.1:n.1125+227_1125+348del
XM_011518142.1:c.1029+227_1029+348del XP_011516444.1:n.1029+227_1029+348del
XM_011518143.1:c.1023+227_1023+348del XP_011516445.1:n.1023+227_1023+348del
XM_011518144.1:c.1338+227_1338+348del XP_011516446.1:n.1338+227_1338+348del
XM_011518145.1:c.882+227_882+348del XP_011516447.1:n.882+227_882+348del
XM_011518146.1:c.1023+227_1023+348del XP_011516448.1:n.1023+227_1023+348del
XR_929703.1:n.1514+227_1514+348del
NM_001353193.1:c.1338+227_1338+348del NP_001340122.1:n.1338+227_1338+348del
NM_001353194.1:c.1110+227_1110+348del NP_001340123.1:n.1110+227_1110+348del
NM_001353195.1:c.921+227_921+348del NP_001340124.1:n.921+227_921+348del
NM_001353196.1:c.1182+227_1182+348del NP_001340125.1:n.1182+227_1182+348del
NM_001353197.1:c.1176+227_1176+348del NP_001340126.1:n.1176+227_1176+348del
NM_001353198.1:c.1176+227_1176+348del NP_001340127.1:n.1176+227_1176+348del
NM_001353199.1:c.987+227_987+348del NP_001340128.1:n.987+227_987+348del
NM_001353200.1:c.816+227_816+348del NP_001340129.1:n.816+227_816+348del
NR_148391.1:n.1322+227_1322+348del
NR_148392.1:n.1540+227_1540+348del
NR_148393.1:n.1322+227_1322+348del
NR_148394.1:n.1215+227_1215+348del
NR_148395.1:n.1474+227_1474+348del
NR_148396.1:n.1108+227_1108+348del
NR_148397.1:n.1372+227_1372+348del
NR_148398.1:n.1327+227_1327+348del
NR_148399.1:n.1714+227_1714+348del
NR_148400.1:n.1313+227_1313+348del
XM_005272162.3:c.141+227_141+348del XP_005272219.1:n.141+227_141+348del
XM_006716932.2:c.987+227_987+348del XP_006716995.1:n.987+227_987+348del
XM_011518140.2:c.1191+227_1191+348del XP_011516442.1:n.1191+227_1191+348del
XM_011518141.2:c.1125+227_1125+348del XP_011516443.1:n.1125+227_1125+348del
XM_011518142.2:c.1029+227_1029+348del XP_011516444.1:n.1029+227_1029+348del
XM_011518143.2:c.1023+227_1023+348del XP_011516445.1:n.1023+227_1023+348del
XM_011518145.2:c.882+227_882+348del XP_011516447.1:n.882+227_882+348del
XM_017014205.2:c.141+227_141+348del XP_016869694.1:n.141+227_141+348del
XM_024447380.1:c.141+227_141+348del XP_024303148.1:n.141+227_141+348del
XM_024447381.1:c.447+227_447+348del XP_024303149.1:n.447+227_447+348del
XM_024447382.1:c.141+227_141+348del XP_024303150.1:n.141+227_141+348del
XR_001746160.2:n.1442+227_1442+348del
XR_001746162.2:n.1508+227_1508+348del
XR_001746164.1:n.1225+227_1225+348del
XR_001746166.2:n.1659+227_1659+348del
NM_001077365.2:c.1272+227_1272+348del MANE Select NP_001070833.1:n.1272+227_1272+348del
NM_001077366.2:c.1110+227_1110+348del NP_001070834.1:n.1110+227_1110+348del
NM_001136113.2:c.1272+227_1272+348del NP_001129585.1:n.1272+227_1272+348del
NM_001136114.2:c.921+227_921+348del NP_001129586.1:n.921+227_921+348del
NM_001353193.2:c.1338+227_1338+348del NP_001340122.2:n.1338+227_1338+348del
NM_001353194.2:c.1110+227_1110+348del NP_001340123.1:n.1110+227_1110+348del
NM_001353195.2:c.921+227_921+348del NP_001340124.1:n.921+227_921+348del
NM_001353196.2:c.1182+227_1182+348del NP_001340125.1:n.1182+227_1182+348del
NM_001353197.2:c.1176+227_1176+348del NP_001340126.2:n.1176+227_1176+348del
NM_001353198.2:c.1176+227_1176+348del NP_001340127.2:n.1176+227_1176+348del
NM_001353199.2:c.987+227_987+348del NP_001340128.2:n.987+227_987+348del
NM_001353200.2:c.816+227_816+348del NP_001340129.1:n.816+227_816+348del
NM_001374689.1:c.1260+227_1260+348del NP_001361618.1:n.1260+227_1260+348del
NM_001374690.1:c.1272+227_1272+348del NP_001361619.1:n.1272+227_1272+348del
NM_001374691.1:c.921+227_921+348del NP_001361620.1:n.921+227_921+348del
NM_001374692.1:c.921+227_921+348del NP_001361621.1:n.921+227_921+348del
NM_001374693.1:c.921+227_921+348del NP_001361622.1:n.921+227_921+348del
NM_001374695.1:c.882+227_882+348del NP_001361624.1:n.882+227_882+348del
NM_007171.4:c.1338+227_1338+348del NP_009102.4:n.1338+227_1338+348del
NR_148391.2:n.1306+227_1306+348del
NR_148392.2:n.1524+227_1524+348del
NR_148393.2:n.1306+227_1306+348del
NR_148394.2:n.1199+227_1199+348del
NR_148395.2:n.1458+227_1458+348del
NR_148396.2:n.1092+227_1092+348del
NR_148397.2:n.1356+227_1356+348del
NR_148398.2:n.1311+227_1311+348del
NR_148399.2:n.1698+227_1698+348del
NR_148400.2:n.1297+227_1297+348del
Search 100 bp 5'
Search 100 bp 3'