Canonical Allele Identifier: CA1129597500
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1948224708
gnomAD v3: 9-131515735-CAGG-C
gnomAD v4: 9-131515735-CAGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515737_131515739del , CM000671.2:g.131515737_131515739del GRCh38
NC_000009.11:g.134391124_134391126del , CM000671.1:g.134391124_134391126del GRCh37
NC_000009.10:g.133380945_133380947del NCBI36
NG_008896.1:g.17836_17838del
NG_008896.2:g.17836_17838del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+215_1110+217del ENSP00000343034.7:n.1110+215_1110+217del
ENST00000404875.7:n.1812+215_1812+217del
ENST00000423007.6:c.1329+215_1329+217del ENSP00000404119.2:n.1329+215_1329+217del
ENST00000677295.2:c.*1616+215_*1616+217del ENSP00000504346.2:n.*1616+215_*1616+217del
ENST00000678264.2:c.*1455+215_*1455+217del ENSP00000503157.2:n.*1455+215_*1455+217del
ENST00000682070.1:n.1737+215_1737+217del
ENST00000682539.1:c.97+215_97+217del
ENST00000682813.1:n.1537+215_1537+217del
ENST00000683392.1:n.4019+215_4019+217del
ENST00000683712.1:n.1677+215_1677+217del
ENST00000683900.1:n.3172+215_3172+217del
ENST00000684062.1:n.1938+215_1938+217del
ENST00000684579.1:n.3118+215_3118+217del
ENST00000341012.12:c.1110+215_1110+217del ENSP00000343034.7:n.1110+215_1110+217del
ENST00000372220.5:c.141+215_141+217del ENSP00000361294.5:n.141+215_141+217del
ENST00000372228.9:c.1338+215_1338+217del ENSP00000361302.3:n.1338+215_1338+217del
ENST00000402686.8:c.1272+215_1272+217del MANE Select ENSP00000385797.4:n.1272+215_1272+217del
ENST00000676640.1:c.1272+215_1272+217del ENSP00000503281.1:n.1272+215_1272+217del
ENST00000676803.1:c.447+215_447+217del ENSP00000503093.1:n.447+215_447+217del
ENST00000676835.1:c.*487+215_*487+217del ENSP00000502911.1:n.*487+215_*487+217del
ENST00000677029.1:c.816+215_816+217del ENSP00000502936.1:n.816+215_816+217del
ENST00000677099.1:c.*982+215_*982+217del ENSP00000504553.1:n.*982+215_*982+217del
ENST00000677216.1:c.921+215_921+217del ENSP00000503772.1:n.921+215_921+217del
ENST00000677295.1:c.*649+215_*649+217del ENSP00000504346.1:n.*649+215_*649+217del
ENST00000677444.1:c.1078+215_1078+217del
ENST00000677586.1:n.753+215_753+217del
ENST00000677626.1:c.921+215_921+217del ENSP00000503552.1:n.921+215_921+217del
ENST00000677677.1:n.1232+215_1232+217del
ENST00000677853.1:c.*280+215_*280+217del ENSP00000503488.1:n.*280+215_*280+217del
ENST00000677944.1:c.534+215_534+217del
ENST00000678264.1:c.*649+215_*649+217del ENSP00000503157.1:n.*649+215_*649+217del
ENST00000678303.1:c.1182+215_1182+217del ENSP00000503696.1:n.1182+215_1182+217del
ENST00000678366.1:c.*1521+215_*1521+217del ENSP00000504353.1:n.*1521+215_*1521+217del
ENST00000678546.1:c.*1217+215_*1217+217del ENSP00000503062.1:n.*1217+215_*1217+217del
ENST00000678548.1:c.*1344+215_*1344+217del ENSP00000503934.1:n.*1344+215_*1344+217del
ENST00000678626.1:n.969+215_969+217del
ENST00000678733.1:c.353+215_353+217del
ENST00000678739.1:c.*1598+215_*1598+217del ENSP00000503806.1:n.*1598+215_*1598+217del
ENST00000678795.1:n.359+215_359+217del
ENST00000678833.1:c.*719+215_*719+217del ENSP00000503893.1:n.*719+215_*719+217del
ENST00000678942.1:c.452+215_452+217del ENSP00000504690.1:n.452+215_452+217del
ENST00000679023.1:c.1110+215_1110+217del ENSP00000503718.1:n.1110+215_1110+217del
ENST00000679076.1:c.891+215_891+217del
ENST00000679111.1:c.1272+215_1272+217del ENSP00000504257.1:n.1272+215_1272+217del
ENST00000679189.1:c.921+215_921+217del ENSP00000503356.1:n.921+215_921+217del
ENST00000341012.11:c.1110+215_1110+217del ENSP00000343034.7:n.1110+215_1110+217del
ENST00000372228.7:c.1338+215_1338+217del ENSP00000361302.3:n.1338+215_1338+217del
ENST00000402686.7:c.1272+215_1272+217del ENSP00000385797.3:n.1272+215_1272+217del
ENST00000404875.6:c.921+215_921+217del ENSP00000384531.2:n.921+215_921+217del
ENST00000423007.5:c.1272+215_1272+217del ENSP00000404119.1:n.1272+215_1272+217del
ENST00000485278.5:n.1827+215_1827+217del
NM_001077365.1:c.1272+215_1272+217del NP_001070833.1:n.1272+215_1272+217del
NM_001077366.1:c.1110+215_1110+217del NP_001070834.1:n.1110+215_1110+217del
NM_001136113.1:c.1272+215_1272+217del NP_001129585.1:n.1272+215_1272+217del
NM_001136114.1:c.921+215_921+217del NP_001129586.1:n.921+215_921+217del
NM_007171.3:c.1338+215_1338+217del NP_009102.3:n.1338+215_1338+217del
XM_005272156.1:c.1338+215_1338+217del XP_005272213.1:n.1338+215_1338+217del
XM_005272158.1:c.1176+215_1176+217del XP_005272215.1:n.1176+215_1176+217del
XM_005272159.1:c.987+215_987+217del XP_005272216.1:n.987+215_987+217del
XM_005272162.1:c.141+215_141+217del XP_005272219.1:n.141+215_141+217del
XM_006716932.1:c.987+215_987+217del XP_006716995.1:n.987+215_987+217del
XM_011518140.1:c.1191+215_1191+217del XP_011516442.1:n.1191+215_1191+217del
XM_011518141.1:c.1125+215_1125+217del XP_011516443.1:n.1125+215_1125+217del
XM_011518142.1:c.1029+215_1029+217del XP_011516444.1:n.1029+215_1029+217del
XM_011518143.1:c.1023+215_1023+217del XP_011516445.1:n.1023+215_1023+217del
XM_011518144.1:c.1338+215_1338+217del XP_011516446.1:n.1338+215_1338+217del
XM_011518145.1:c.882+215_882+217del XP_011516447.1:n.882+215_882+217del
XM_011518146.1:c.1023+215_1023+217del XP_011516448.1:n.1023+215_1023+217del
XR_929703.1:n.1514+215_1514+217del
NM_001353193.1:c.1338+215_1338+217del NP_001340122.1:n.1338+215_1338+217del
NM_001353194.1:c.1110+215_1110+217del NP_001340123.1:n.1110+215_1110+217del
NM_001353195.1:c.921+215_921+217del NP_001340124.1:n.921+215_921+217del
NM_001353196.1:c.1182+215_1182+217del NP_001340125.1:n.1182+215_1182+217del
NM_001353197.1:c.1176+215_1176+217del NP_001340126.1:n.1176+215_1176+217del
NM_001353198.1:c.1176+215_1176+217del NP_001340127.1:n.1176+215_1176+217del
NM_001353199.1:c.987+215_987+217del NP_001340128.1:n.987+215_987+217del
NM_001353200.1:c.816+215_816+217del NP_001340129.1:n.816+215_816+217del
NR_148391.1:n.1322+215_1322+217del
NR_148392.1:n.1540+215_1540+217del
NR_148393.1:n.1322+215_1322+217del
NR_148394.1:n.1215+215_1215+217del
NR_148395.1:n.1474+215_1474+217del
NR_148396.1:n.1108+215_1108+217del
NR_148397.1:n.1372+215_1372+217del
NR_148398.1:n.1327+215_1327+217del
NR_148399.1:n.1714+215_1714+217del
NR_148400.1:n.1313+215_1313+217del
XM_005272162.3:c.141+215_141+217del XP_005272219.1:n.141+215_141+217del
XM_006716932.2:c.987+215_987+217del XP_006716995.1:n.987+215_987+217del
XM_011518140.2:c.1191+215_1191+217del XP_011516442.1:n.1191+215_1191+217del
XM_011518141.2:c.1125+215_1125+217del XP_011516443.1:n.1125+215_1125+217del
XM_011518142.2:c.1029+215_1029+217del XP_011516444.1:n.1029+215_1029+217del
XM_011518143.2:c.1023+215_1023+217del XP_011516445.1:n.1023+215_1023+217del
XM_011518145.2:c.882+215_882+217del XP_011516447.1:n.882+215_882+217del
XM_017014205.2:c.141+215_141+217del XP_016869694.1:n.141+215_141+217del
XM_024447380.1:c.141+215_141+217del XP_024303148.1:n.141+215_141+217del
XM_024447381.1:c.447+215_447+217del XP_024303149.1:n.447+215_447+217del
XM_024447382.1:c.141+215_141+217del XP_024303150.1:n.141+215_141+217del
XR_001746160.2:n.1442+215_1442+217del
XR_001746162.2:n.1508+215_1508+217del
XR_001746164.1:n.1225+215_1225+217del
XR_001746166.2:n.1659+215_1659+217del
NM_001077365.2:c.1272+215_1272+217del MANE Select NP_001070833.1:n.1272+215_1272+217del
NM_001077366.2:c.1110+215_1110+217del NP_001070834.1:n.1110+215_1110+217del
NM_001136113.2:c.1272+215_1272+217del NP_001129585.1:n.1272+215_1272+217del
NM_001136114.2:c.921+215_921+217del NP_001129586.1:n.921+215_921+217del
NM_001353193.2:c.1338+215_1338+217del NP_001340122.2:n.1338+215_1338+217del
NM_001353194.2:c.1110+215_1110+217del NP_001340123.1:n.1110+215_1110+217del
NM_001353195.2:c.921+215_921+217del NP_001340124.1:n.921+215_921+217del
NM_001353196.2:c.1182+215_1182+217del NP_001340125.1:n.1182+215_1182+217del
NM_001353197.2:c.1176+215_1176+217del NP_001340126.2:n.1176+215_1176+217del
NM_001353198.2:c.1176+215_1176+217del NP_001340127.2:n.1176+215_1176+217del
NM_001353199.2:c.987+215_987+217del NP_001340128.2:n.987+215_987+217del
NM_001353200.2:c.816+215_816+217del NP_001340129.1:n.816+215_816+217del
NM_001374689.1:c.1260+215_1260+217del NP_001361618.1:n.1260+215_1260+217del
NM_001374690.1:c.1272+215_1272+217del NP_001361619.1:n.1272+215_1272+217del
NM_001374691.1:c.921+215_921+217del NP_001361620.1:n.921+215_921+217del
NM_001374692.1:c.921+215_921+217del NP_001361621.1:n.921+215_921+217del
NM_001374693.1:c.921+215_921+217del NP_001361622.1:n.921+215_921+217del
NM_001374695.1:c.882+215_882+217del NP_001361624.1:n.882+215_882+217del
NM_007171.4:c.1338+215_1338+217del NP_009102.4:n.1338+215_1338+217del
NR_148391.2:n.1306+215_1306+217del
NR_148392.2:n.1524+215_1524+217del
NR_148393.2:n.1306+215_1306+217del
NR_148394.2:n.1199+215_1199+217del
NR_148395.2:n.1458+215_1458+217del
NR_148396.2:n.1092+215_1092+217del
NR_148397.2:n.1356+215_1356+217del
NR_148398.2:n.1311+215_1311+217del
NR_148399.2:n.1698+215_1698+217del
NR_148400.2:n.1297+215_1297+217del
Search 100 bp 5'
Search 100 bp 3'