Canonical Allele Identifier: CA1129597017
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs2131754759
gnomAD v3: 9-131515609-TAA-T
gnomAD v4: 9-131515609-TAA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515610_131515611del , CM000671.2:g.131515610_131515611del GRCh38
NC_000009.11:g.134390997_134390998del , CM000671.1:g.134390997_134390998del GRCh37
NC_000009.10:g.133380818_133380819del NCBI36
NG_008896.1:g.17709_17710del
NG_008896.2:g.17709_17710del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+88_1110+89del ENSP00000343034.7:n.1110+88_1110+89del
ENST00000404875.7:n.1812+88_1812+89del
ENST00000423007.6:c.1329+88_1329+89del ENSP00000404119.2:n.1329+88_1329+89del
ENST00000677295.2:c.*1616+88_*1616+89del ENSP00000504346.2:n.*1616+88_*1616+89del
ENST00000678264.2:c.*1455+88_*1455+89del ENSP00000503157.2:n.*1455+88_*1455+89del
ENST00000682070.1:n.1737+88_1737+89del
ENST00000682539.1:c.97+88_97+89del
ENST00000682813.1:n.1537+88_1537+89del
ENST00000683392.1:n.4019+88_4019+89del
ENST00000683712.1:n.1677+88_1677+89del
ENST00000683900.1:n.3172+88_3172+89del
ENST00000684062.1:n.1938+88_1938+89del
ENST00000684579.1:n.3118+88_3118+89del
ENST00000341012.12:c.1110+88_1110+89del ENSP00000343034.7:n.1110+88_1110+89del
ENST00000372220.5:c.141+88_141+89del ENSP00000361294.5:n.141+88_141+89del
ENST00000372228.9:c.1338+88_1338+89del ENSP00000361302.3:n.1338+88_1338+89del
ENST00000402686.8:c.1272+88_1272+89del MANE Select ENSP00000385797.4:n.1272+88_1272+89del
ENST00000676640.1:c.1272+88_1272+89del ENSP00000503281.1:n.1272+88_1272+89del
ENST00000676803.1:c.447+88_447+89del ENSP00000503093.1:n.447+88_447+89del
ENST00000676835.1:c.*487+88_*487+89del ENSP00000502911.1:n.*487+88_*487+89del
ENST00000677029.1:c.816+88_816+89del ENSP00000502936.1:n.816+88_816+89del
ENST00000677099.1:c.*982+88_*982+89del ENSP00000504553.1:n.*982+88_*982+89del
ENST00000677216.1:c.921+88_921+89del ENSP00000503772.1:n.921+88_921+89del
ENST00000677295.1:c.*649+88_*649+89del ENSP00000504346.1:n.*649+88_*649+89del
ENST00000677444.1:c.1078+88_1078+89del
ENST00000677586.1:n.753+88_753+89del
ENST00000677626.1:c.921+88_921+89del ENSP00000503552.1:n.921+88_921+89del
ENST00000677677.1:n.1232+88_1232+89del
ENST00000677853.1:c.*280+88_*280+89del ENSP00000503488.1:n.*280+88_*280+89del
ENST00000677944.1:c.534+88_534+89del
ENST00000678264.1:c.*649+88_*649+89del ENSP00000503157.1:n.*649+88_*649+89del
ENST00000678303.1:c.1182+88_1182+89del ENSP00000503696.1:n.1182+88_1182+89del
ENST00000678366.1:c.*1521+88_*1521+89del ENSP00000504353.1:n.*1521+88_*1521+89del
ENST00000678546.1:c.*1217+88_*1217+89del ENSP00000503062.1:n.*1217+88_*1217+89del
ENST00000678548.1:c.*1344+88_*1344+89del ENSP00000503934.1:n.*1344+88_*1344+89del
ENST00000678626.1:n.969+88_969+89del
ENST00000678733.1:c.353+88_353+89del
ENST00000678739.1:c.*1598+88_*1598+89del ENSP00000503806.1:n.*1598+88_*1598+89del
ENST00000678795.1:n.359+88_359+89del
ENST00000678833.1:c.*719+88_*719+89del ENSP00000503893.1:n.*719+88_*719+89del
ENST00000678942.1:c.452+88_452+89del ENSP00000504690.1:n.452+88_452+89del
ENST00000679023.1:c.1110+88_1110+89del ENSP00000503718.1:n.1110+88_1110+89del
ENST00000679076.1:c.891+88_891+89del
ENST00000679111.1:c.1272+88_1272+89del ENSP00000504257.1:n.1272+88_1272+89del
ENST00000679189.1:c.921+88_921+89del ENSP00000503356.1:n.921+88_921+89del
ENST00000341012.11:c.1110+88_1110+89del ENSP00000343034.7:n.1110+88_1110+89del
ENST00000372228.7:c.1338+88_1338+89del ENSP00000361302.3:n.1338+88_1338+89del
ENST00000402686.7:c.1272+88_1272+89del ENSP00000385797.3:n.1272+88_1272+89del
ENST00000404875.6:c.921+88_921+89del ENSP00000384531.2:n.921+88_921+89del
ENST00000423007.5:c.1272+88_1272+89del ENSP00000404119.1:n.1272+88_1272+89del
ENST00000485278.5:n.1827+88_1827+89del
NM_001077365.1:c.1272+88_1272+89del NP_001070833.1:n.1272+88_1272+89del
NM_001077366.1:c.1110+88_1110+89del NP_001070834.1:n.1110+88_1110+89del
NM_001136113.1:c.1272+88_1272+89del NP_001129585.1:n.1272+88_1272+89del
NM_001136114.1:c.921+88_921+89del NP_001129586.1:n.921+88_921+89del
NM_007171.3:c.1338+88_1338+89del NP_009102.3:n.1338+88_1338+89del
XM_005272156.1:c.1338+88_1338+89del XP_005272213.1:n.1338+88_1338+89del
XM_005272158.1:c.1176+88_1176+89del XP_005272215.1:n.1176+88_1176+89del
XM_005272159.1:c.987+88_987+89del XP_005272216.1:n.987+88_987+89del
XM_005272162.1:c.141+88_141+89del XP_005272219.1:n.141+88_141+89del
XM_006716932.1:c.987+88_987+89del XP_006716995.1:n.987+88_987+89del
XM_011518140.1:c.1191+88_1191+89del XP_011516442.1:n.1191+88_1191+89del
XM_011518141.1:c.1125+88_1125+89del XP_011516443.1:n.1125+88_1125+89del
XM_011518142.1:c.1029+88_1029+89del XP_011516444.1:n.1029+88_1029+89del
XM_011518143.1:c.1023+88_1023+89del XP_011516445.1:n.1023+88_1023+89del
XM_011518144.1:c.1338+88_1338+89del XP_011516446.1:n.1338+88_1338+89del
XM_011518145.1:c.882+88_882+89del XP_011516447.1:n.882+88_882+89del
XM_011518146.1:c.1023+88_1023+89del XP_011516448.1:n.1023+88_1023+89del
XR_929703.1:n.1514+88_1514+89del
NM_001353193.1:c.1338+88_1338+89del NP_001340122.1:n.1338+88_1338+89del
NM_001353194.1:c.1110+88_1110+89del NP_001340123.1:n.1110+88_1110+89del
NM_001353195.1:c.921+88_921+89del NP_001340124.1:n.921+88_921+89del
NM_001353196.1:c.1182+88_1182+89del NP_001340125.1:n.1182+88_1182+89del
NM_001353197.1:c.1176+88_1176+89del NP_001340126.1:n.1176+88_1176+89del
NM_001353198.1:c.1176+88_1176+89del NP_001340127.1:n.1176+88_1176+89del
NM_001353199.1:c.987+88_987+89del NP_001340128.1:n.987+88_987+89del
NM_001353200.1:c.816+88_816+89del NP_001340129.1:n.816+88_816+89del
NR_148391.1:n.1322+88_1322+89del
NR_148392.1:n.1540+88_1540+89del
NR_148393.1:n.1322+88_1322+89del
NR_148394.1:n.1215+88_1215+89del
NR_148395.1:n.1474+88_1474+89del
NR_148396.1:n.1108+88_1108+89del
NR_148397.1:n.1372+88_1372+89del
NR_148398.1:n.1327+88_1327+89del
NR_148399.1:n.1714+88_1714+89del
NR_148400.1:n.1313+88_1313+89del
XM_005272162.3:c.141+88_141+89del XP_005272219.1:n.141+88_141+89del
XM_006716932.2:c.987+88_987+89del XP_006716995.1:n.987+88_987+89del
XM_011518140.2:c.1191+88_1191+89del XP_011516442.1:n.1191+88_1191+89del
XM_011518141.2:c.1125+88_1125+89del XP_011516443.1:n.1125+88_1125+89del
XM_011518142.2:c.1029+88_1029+89del XP_011516444.1:n.1029+88_1029+89del
XM_011518143.2:c.1023+88_1023+89del XP_011516445.1:n.1023+88_1023+89del
XM_011518145.2:c.882+88_882+89del XP_011516447.1:n.882+88_882+89del
XM_017014205.2:c.141+88_141+89del XP_016869694.1:n.141+88_141+89del
XM_024447380.1:c.141+88_141+89del XP_024303148.1:n.141+88_141+89del
XM_024447381.1:c.447+88_447+89del XP_024303149.1:n.447+88_447+89del
XM_024447382.1:c.141+88_141+89del XP_024303150.1:n.141+88_141+89del
XR_001746160.2:n.1442+88_1442+89del
XR_001746162.2:n.1508+88_1508+89del
XR_001746164.1:n.1225+88_1225+89del
XR_001746166.2:n.1659+88_1659+89del
NM_001077365.2:c.1272+88_1272+89del MANE Select NP_001070833.1:n.1272+88_1272+89del
NM_001077366.2:c.1110+88_1110+89del NP_001070834.1:n.1110+88_1110+89del
NM_001136113.2:c.1272+88_1272+89del NP_001129585.1:n.1272+88_1272+89del
NM_001136114.2:c.921+88_921+89del NP_001129586.1:n.921+88_921+89del
NM_001353193.2:c.1338+88_1338+89del NP_001340122.2:n.1338+88_1338+89del
NM_001353194.2:c.1110+88_1110+89del NP_001340123.1:n.1110+88_1110+89del
NM_001353195.2:c.921+88_921+89del NP_001340124.1:n.921+88_921+89del
NM_001353196.2:c.1182+88_1182+89del NP_001340125.1:n.1182+88_1182+89del
NM_001353197.2:c.1176+88_1176+89del NP_001340126.2:n.1176+88_1176+89del
NM_001353198.2:c.1176+88_1176+89del NP_001340127.2:n.1176+88_1176+89del
NM_001353199.2:c.987+88_987+89del NP_001340128.2:n.987+88_987+89del
NM_001353200.2:c.816+88_816+89del NP_001340129.1:n.816+88_816+89del
NM_001374689.1:c.1260+88_1260+89del NP_001361618.1:n.1260+88_1260+89del
NM_001374690.1:c.1272+88_1272+89del NP_001361619.1:n.1272+88_1272+89del
NM_001374691.1:c.921+88_921+89del NP_001361620.1:n.921+88_921+89del
NM_001374692.1:c.921+88_921+89del NP_001361621.1:n.921+88_921+89del
NM_001374693.1:c.921+88_921+89del NP_001361622.1:n.921+88_921+89del
NM_001374695.1:c.882+88_882+89del NP_001361624.1:n.882+88_882+89del
NM_007171.4:c.1338+88_1338+89del NP_009102.4:n.1338+88_1338+89del
NR_148391.2:n.1306+88_1306+89del
NR_148392.2:n.1524+88_1524+89del
NR_148393.2:n.1306+88_1306+89del
NR_148394.2:n.1199+88_1199+89del
NR_148395.2:n.1458+88_1458+89del
NR_148396.2:n.1092+88_1092+89del
NR_148397.2:n.1356+88_1356+89del
NR_148398.2:n.1311+88_1311+89del
NR_148399.2:n.1698+88_1698+89del
NR_148400.2:n.1297+88_1297+89del
Search 100 bp 5'
Search 100 bp 3'