Canonical Allele Identifier: CA1129598000
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v3: 9-131515822-AACACAGGACACTTCCTCACACGGAGCACTTCCTC-A
gnomAD v4: 9-131515822-AACACAGGACACTTCCTCACACGGAGCACTTCCTC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515826_131515859del , CM000671.2:g.131515826_131515859del GRCh38
NC_000009.11:g.134391213_134391246del , CM000671.1:g.134391213_134391246del GRCh37
NC_000009.10:g.133381034_133381067del NCBI36
NG_008896.1:g.17925_17958del
NG_008896.2:g.17925_17958del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+304_1110+337del ENSP00000343034.7:n.1110+304_1110+337del
ENST00000404875.7:n.1812+304_1812+337del
ENST00000423007.6:c.1329+304_1329+337del ENSP00000404119.2:n.1329+304_1329+337del
ENST00000677295.2:c.*1616+304_*1616+337del ENSP00000504346.2:n.*1616+304_*1616+337del
ENST00000678264.2:c.*1455+304_*1455+337del ENSP00000503157.2:n.*1455+304_*1455+337del
ENST00000682070.1:n.1737+304_1737+337del
ENST00000682539.1:c.97+304_97+337del
ENST00000682813.1:n.1537+304_1537+337del
ENST00000683392.1:n.4019+304_4019+337del
ENST00000683712.1:n.1677+304_1677+337del
ENST00000683900.1:n.3172+304_3172+337del
ENST00000684062.1:n.1938+304_1938+337del
ENST00000684579.1:n.3118+304_3118+337del
ENST00000341012.12:c.1110+304_1110+337del ENSP00000343034.7:n.1110+304_1110+337del
ENST00000372220.5:c.141+304_141+337del ENSP00000361294.5:n.141+304_141+337del
ENST00000372228.9:c.1338+304_1338+337del ENSP00000361302.3:n.1338+304_1338+337del
ENST00000402686.8:c.1272+304_1272+337del MANE Select ENSP00000385797.4:n.1272+304_1272+337del
ENST00000676640.1:c.1272+304_1272+337del ENSP00000503281.1:n.1272+304_1272+337del
ENST00000676803.1:c.447+304_447+337del ENSP00000503093.1:n.447+304_447+337del
ENST00000676835.1:c.*487+304_*487+337del ENSP00000502911.1:n.*487+304_*487+337del
ENST00000677029.1:c.816+304_816+337del ENSP00000502936.1:n.816+304_816+337del
ENST00000677099.1:c.*982+304_*982+337del ENSP00000504553.1:n.*982+304_*982+337del
ENST00000677216.1:c.921+304_921+337del ENSP00000503772.1:n.921+304_921+337del
ENST00000677295.1:c.*649+304_*649+337del ENSP00000504346.1:n.*649+304_*649+337del
ENST00000677444.1:c.1078+304_1078+337del
ENST00000677586.1:n.753+304_753+337del
ENST00000677626.1:c.921+304_921+337del ENSP00000503552.1:n.921+304_921+337del
ENST00000677677.1:n.1232+304_1232+337del
ENST00000677853.1:c.*280+304_*280+337del ENSP00000503488.1:n.*280+304_*280+337del
ENST00000677944.1:c.534+304_534+337del
ENST00000678264.1:c.*649+304_*649+337del ENSP00000503157.1:n.*649+304_*649+337del
ENST00000678303.1:c.1182+304_1182+337del ENSP00000503696.1:n.1182+304_1182+337del
ENST00000678366.1:c.*1521+304_*1521+337del ENSP00000504353.1:n.*1521+304_*1521+337del
ENST00000678546.1:c.*1217+304_*1217+337del ENSP00000503062.1:n.*1217+304_*1217+337del
ENST00000678548.1:c.*1344+304_*1344+337del ENSP00000503934.1:n.*1344+304_*1344+337del
ENST00000678626.1:n.969+304_969+337del
ENST00000678733.1:c.353+304_353+337del
ENST00000678739.1:c.*1598+304_*1598+337del ENSP00000503806.1:n.*1598+304_*1598+337del
ENST00000678795.1:n.359+304_359+337del
ENST00000678833.1:c.*719+304_*719+337del ENSP00000503893.1:n.*719+304_*719+337del
ENST00000678942.1:c.452+304_452+337del ENSP00000504690.1:n.452+304_452+337del
ENST00000679023.1:c.1110+304_1110+337del ENSP00000503718.1:n.1110+304_1110+337del
ENST00000679076.1:c.891+304_891+337del
ENST00000679111.1:c.1272+304_1272+337del ENSP00000504257.1:n.1272+304_1272+337del
ENST00000679189.1:c.921+304_921+337del ENSP00000503356.1:n.921+304_921+337del
ENST00000341012.11:c.1110+304_1110+337del ENSP00000343034.7:n.1110+304_1110+337del
ENST00000372228.7:c.1338+304_1338+337del ENSP00000361302.3:n.1338+304_1338+337del
ENST00000402686.7:c.1272+304_1272+337del ENSP00000385797.3:n.1272+304_1272+337del
ENST00000404875.6:c.921+304_921+337del ENSP00000384531.2:n.921+304_921+337del
ENST00000423007.5:c.1272+304_1272+337del ENSP00000404119.1:n.1272+304_1272+337del
ENST00000485278.5:n.1827+304_1827+337del
NM_001077365.1:c.1272+304_1272+337del NP_001070833.1:n.1272+304_1272+337del
NM_001077366.1:c.1110+304_1110+337del NP_001070834.1:n.1110+304_1110+337del
NM_001136113.1:c.1272+304_1272+337del NP_001129585.1:n.1272+304_1272+337del
NM_001136114.1:c.921+304_921+337del NP_001129586.1:n.921+304_921+337del
NM_007171.3:c.1338+304_1338+337del NP_009102.3:n.1338+304_1338+337del
XM_005272156.1:c.1338+304_1338+337del XP_005272213.1:n.1338+304_1338+337del
XM_005272158.1:c.1176+304_1176+337del XP_005272215.1:n.1176+304_1176+337del
XM_005272159.1:c.987+304_987+337del XP_005272216.1:n.987+304_987+337del
XM_005272162.1:c.141+304_141+337del XP_005272219.1:n.141+304_141+337del
XM_006716932.1:c.987+304_987+337del XP_006716995.1:n.987+304_987+337del
XM_011518140.1:c.1191+304_1191+337del XP_011516442.1:n.1191+304_1191+337del
XM_011518141.1:c.1125+304_1125+337del XP_011516443.1:n.1125+304_1125+337del
XM_011518142.1:c.1029+304_1029+337del XP_011516444.1:n.1029+304_1029+337del
XM_011518143.1:c.1023+304_1023+337del XP_011516445.1:n.1023+304_1023+337del
XM_011518144.1:c.1338+304_1338+337del XP_011516446.1:n.1338+304_1338+337del
XM_011518145.1:c.882+304_882+337del XP_011516447.1:n.882+304_882+337del
XM_011518146.1:c.1023+304_1023+337del XP_011516448.1:n.1023+304_1023+337del
XR_929703.1:n.1514+304_1514+337del
NM_001353193.1:c.1338+304_1338+337del NP_001340122.1:n.1338+304_1338+337del
NM_001353194.1:c.1110+304_1110+337del NP_001340123.1:n.1110+304_1110+337del
NM_001353195.1:c.921+304_921+337del NP_001340124.1:n.921+304_921+337del
NM_001353196.1:c.1182+304_1182+337del NP_001340125.1:n.1182+304_1182+337del
NM_001353197.1:c.1176+304_1176+337del NP_001340126.1:n.1176+304_1176+337del
NM_001353198.1:c.1176+304_1176+337del NP_001340127.1:n.1176+304_1176+337del
NM_001353199.1:c.987+304_987+337del NP_001340128.1:n.987+304_987+337del
NM_001353200.1:c.816+304_816+337del NP_001340129.1:n.816+304_816+337del
NR_148391.1:n.1322+304_1322+337del
NR_148392.1:n.1540+304_1540+337del
NR_148393.1:n.1322+304_1322+337del
NR_148394.1:n.1215+304_1215+337del
NR_148395.1:n.1474+304_1474+337del
NR_148396.1:n.1108+304_1108+337del
NR_148397.1:n.1372+304_1372+337del
NR_148398.1:n.1327+304_1327+337del
NR_148399.1:n.1714+304_1714+337del
NR_148400.1:n.1313+304_1313+337del
XM_005272162.3:c.141+304_141+337del XP_005272219.1:n.141+304_141+337del
XM_006716932.2:c.987+304_987+337del XP_006716995.1:n.987+304_987+337del
XM_011518140.2:c.1191+304_1191+337del XP_011516442.1:n.1191+304_1191+337del
XM_011518141.2:c.1125+304_1125+337del XP_011516443.1:n.1125+304_1125+337del
XM_011518142.2:c.1029+304_1029+337del XP_011516444.1:n.1029+304_1029+337del
XM_011518143.2:c.1023+304_1023+337del XP_011516445.1:n.1023+304_1023+337del
XM_011518145.2:c.882+304_882+337del XP_011516447.1:n.882+304_882+337del
XM_017014205.2:c.141+304_141+337del XP_016869694.1:n.141+304_141+337del
XM_024447380.1:c.141+304_141+337del XP_024303148.1:n.141+304_141+337del
XM_024447381.1:c.447+304_447+337del XP_024303149.1:n.447+304_447+337del
XM_024447382.1:c.141+304_141+337del XP_024303150.1:n.141+304_141+337del
XR_001746160.2:n.1442+304_1442+337del
XR_001746162.2:n.1508+304_1508+337del
XR_001746164.1:n.1225+304_1225+337del
XR_001746166.2:n.1659+304_1659+337del
NM_001077365.2:c.1272+304_1272+337del MANE Select NP_001070833.1:n.1272+304_1272+337del
NM_001077366.2:c.1110+304_1110+337del NP_001070834.1:n.1110+304_1110+337del
NM_001136113.2:c.1272+304_1272+337del NP_001129585.1:n.1272+304_1272+337del
NM_001136114.2:c.921+304_921+337del NP_001129586.1:n.921+304_921+337del
NM_001353193.2:c.1338+304_1338+337del NP_001340122.2:n.1338+304_1338+337del
NM_001353194.2:c.1110+304_1110+337del NP_001340123.1:n.1110+304_1110+337del
NM_001353195.2:c.921+304_921+337del NP_001340124.1:n.921+304_921+337del
NM_001353196.2:c.1182+304_1182+337del NP_001340125.1:n.1182+304_1182+337del
NM_001353197.2:c.1176+304_1176+337del NP_001340126.2:n.1176+304_1176+337del
NM_001353198.2:c.1176+304_1176+337del NP_001340127.2:n.1176+304_1176+337del
NM_001353199.2:c.987+304_987+337del NP_001340128.2:n.987+304_987+337del
NM_001353200.2:c.816+304_816+337del NP_001340129.1:n.816+304_816+337del
NM_001374689.1:c.1260+304_1260+337del NP_001361618.1:n.1260+304_1260+337del
NM_001374690.1:c.1272+304_1272+337del NP_001361619.1:n.1272+304_1272+337del
NM_001374691.1:c.921+304_921+337del NP_001361620.1:n.921+304_921+337del
NM_001374692.1:c.921+304_921+337del NP_001361621.1:n.921+304_921+337del
NM_001374693.1:c.921+304_921+337del NP_001361622.1:n.921+304_921+337del
NM_001374695.1:c.882+304_882+337del NP_001361624.1:n.882+304_882+337del
NM_007171.4:c.1338+304_1338+337del NP_009102.4:n.1338+304_1338+337del
NR_148391.2:n.1306+304_1306+337del
NR_148392.2:n.1524+304_1524+337del
NR_148393.2:n.1306+304_1306+337del
NR_148394.2:n.1199+304_1199+337del
NR_148395.2:n.1458+304_1458+337del
NR_148396.2:n.1092+304_1092+337del
NR_148397.2:n.1356+304_1356+337del
NR_148398.2:n.1311+304_1311+337del
NR_148399.2:n.1698+304_1698+337del
NR_148400.2:n.1297+304_1297+337del
Search 100 bp 5'
Search 100 bp 3'