Canonical Allele Identifier: CA1129596992
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v3: 9-131515595-CCCGG-C
gnomAD v4: 9-131515595-CCCGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515596_131515599del , CM000671.2:g.131515596_131515599del GRCh38
NC_000009.11:g.134390983_134390986del , CM000671.1:g.134390983_134390986del GRCh37
NC_000009.10:g.133380804_133380807del NCBI36
NG_008896.1:g.17695_17698del
NG_008896.2:g.17695_17698del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+74_1110+77del ENSP00000343034.7:n.1110+74_1110+77del
ENST00000404875.7:n.1812+74_1812+77del
ENST00000423007.6:c.1329+74_1329+77del ENSP00000404119.2:n.1329+74_1329+77del
ENST00000677295.2:c.*1616+74_*1616+77del ENSP00000504346.2:n.*1616+74_*1616+77del
ENST00000678264.2:c.*1455+74_*1455+77del ENSP00000503157.2:n.*1455+74_*1455+77del
ENST00000682070.1:n.1737+74_1737+77del
ENST00000682539.1:c.97+74_97+77del
ENST00000682813.1:n.1537+74_1537+77del
ENST00000683392.1:n.4019+74_4019+77del
ENST00000683712.1:n.1677+74_1677+77del
ENST00000683900.1:n.3172+74_3172+77del
ENST00000684062.1:n.1938+74_1938+77del
ENST00000684579.1:n.3118+74_3118+77del
ENST00000341012.12:c.1110+74_1110+77del ENSP00000343034.7:n.1110+74_1110+77del
ENST00000372220.5:c.141+74_141+77del ENSP00000361294.5:n.141+74_141+77del
ENST00000372228.9:c.1338+74_1338+77del ENSP00000361302.3:n.1338+74_1338+77del
ENST00000402686.8:c.1272+74_1272+77del MANE Select ENSP00000385797.4:n.1272+74_1272+77del
ENST00000676640.1:c.1272+74_1272+77del ENSP00000503281.1:n.1272+74_1272+77del
ENST00000676803.1:c.447+74_447+77del ENSP00000503093.1:n.447+74_447+77del
ENST00000676835.1:c.*487+74_*487+77del ENSP00000502911.1:n.*487+74_*487+77del
ENST00000677029.1:c.816+74_816+77del ENSP00000502936.1:n.816+74_816+77del
ENST00000677099.1:c.*982+74_*982+77del ENSP00000504553.1:n.*982+74_*982+77del
ENST00000677216.1:c.921+74_921+77del ENSP00000503772.1:n.921+74_921+77del
ENST00000677295.1:c.*649+74_*649+77del ENSP00000504346.1:n.*649+74_*649+77del
ENST00000677444.1:c.1078+74_1078+77del
ENST00000677586.1:n.753+74_753+77del
ENST00000677626.1:c.921+74_921+77del ENSP00000503552.1:n.921+74_921+77del
ENST00000677677.1:n.1232+74_1232+77del
ENST00000677853.1:c.*280+74_*280+77del ENSP00000503488.1:n.*280+74_*280+77del
ENST00000677944.1:c.534+74_534+77del
ENST00000678264.1:c.*649+74_*649+77del ENSP00000503157.1:n.*649+74_*649+77del
ENST00000678303.1:c.1182+74_1182+77del ENSP00000503696.1:n.1182+74_1182+77del
ENST00000678366.1:c.*1521+74_*1521+77del ENSP00000504353.1:n.*1521+74_*1521+77del
ENST00000678546.1:c.*1217+74_*1217+77del ENSP00000503062.1:n.*1217+74_*1217+77del
ENST00000678548.1:c.*1344+74_*1344+77del ENSP00000503934.1:n.*1344+74_*1344+77del
ENST00000678626.1:n.969+74_969+77del
ENST00000678733.1:c.353+74_353+77del
ENST00000678739.1:c.*1598+74_*1598+77del ENSP00000503806.1:n.*1598+74_*1598+77del
ENST00000678795.1:n.359+74_359+77del
ENST00000678833.1:c.*719+74_*719+77del ENSP00000503893.1:n.*719+74_*719+77del
ENST00000678942.1:c.452+74_452+77del ENSP00000504690.1:n.452+74_452+77del
ENST00000679023.1:c.1110+74_1110+77del ENSP00000503718.1:n.1110+74_1110+77del
ENST00000679076.1:c.891+74_891+77del
ENST00000679111.1:c.1272+74_1272+77del ENSP00000504257.1:n.1272+74_1272+77del
ENST00000679189.1:c.921+74_921+77del ENSP00000503356.1:n.921+74_921+77del
ENST00000341012.11:c.1110+74_1110+77del ENSP00000343034.7:n.1110+74_1110+77del
ENST00000372228.7:c.1338+74_1338+77del ENSP00000361302.3:n.1338+74_1338+77del
ENST00000402686.7:c.1272+74_1272+77del ENSP00000385797.3:n.1272+74_1272+77del
ENST00000404875.6:c.921+74_921+77del ENSP00000384531.2:n.921+74_921+77del
ENST00000423007.5:c.1272+74_1272+77del ENSP00000404119.1:n.1272+74_1272+77del
ENST00000485278.5:n.1827+74_1827+77del
NM_001077365.1:c.1272+74_1272+77del NP_001070833.1:n.1272+74_1272+77del
NM_001077366.1:c.1110+74_1110+77del NP_001070834.1:n.1110+74_1110+77del
NM_001136113.1:c.1272+74_1272+77del NP_001129585.1:n.1272+74_1272+77del
NM_001136114.1:c.921+74_921+77del NP_001129586.1:n.921+74_921+77del
NM_007171.3:c.1338+74_1338+77del NP_009102.3:n.1338+74_1338+77del
XM_005272156.1:c.1338+74_1338+77del XP_005272213.1:n.1338+74_1338+77del
XM_005272158.1:c.1176+74_1176+77del XP_005272215.1:n.1176+74_1176+77del
XM_005272159.1:c.987+74_987+77del XP_005272216.1:n.987+74_987+77del
XM_005272162.1:c.141+74_141+77del XP_005272219.1:n.141+74_141+77del
XM_006716932.1:c.987+74_987+77del XP_006716995.1:n.987+74_987+77del
XM_011518140.1:c.1191+74_1191+77del XP_011516442.1:n.1191+74_1191+77del
XM_011518141.1:c.1125+74_1125+77del XP_011516443.1:n.1125+74_1125+77del
XM_011518142.1:c.1029+74_1029+77del XP_011516444.1:n.1029+74_1029+77del
XM_011518143.1:c.1023+74_1023+77del XP_011516445.1:n.1023+74_1023+77del
XM_011518144.1:c.1338+74_1338+77del XP_011516446.1:n.1338+74_1338+77del
XM_011518145.1:c.882+74_882+77del XP_011516447.1:n.882+74_882+77del
XM_011518146.1:c.1023+74_1023+77del XP_011516448.1:n.1023+74_1023+77del
XR_929703.1:n.1514+74_1514+77del
NM_001353193.1:c.1338+74_1338+77del NP_001340122.1:n.1338+74_1338+77del
NM_001353194.1:c.1110+74_1110+77del NP_001340123.1:n.1110+74_1110+77del
NM_001353195.1:c.921+74_921+77del NP_001340124.1:n.921+74_921+77del
NM_001353196.1:c.1182+74_1182+77del NP_001340125.1:n.1182+74_1182+77del
NM_001353197.1:c.1176+74_1176+77del NP_001340126.1:n.1176+74_1176+77del
NM_001353198.1:c.1176+74_1176+77del NP_001340127.1:n.1176+74_1176+77del
NM_001353199.1:c.987+74_987+77del NP_001340128.1:n.987+74_987+77del
NM_001353200.1:c.816+74_816+77del NP_001340129.1:n.816+74_816+77del
NR_148391.1:n.1322+74_1322+77del
NR_148392.1:n.1540+74_1540+77del
NR_148393.1:n.1322+74_1322+77del
NR_148394.1:n.1215+74_1215+77del
NR_148395.1:n.1474+74_1474+77del
NR_148396.1:n.1108+74_1108+77del
NR_148397.1:n.1372+74_1372+77del
NR_148398.1:n.1327+74_1327+77del
NR_148399.1:n.1714+74_1714+77del
NR_148400.1:n.1313+74_1313+77del
XM_005272162.3:c.141+74_141+77del XP_005272219.1:n.141+74_141+77del
XM_006716932.2:c.987+74_987+77del XP_006716995.1:n.987+74_987+77del
XM_011518140.2:c.1191+74_1191+77del XP_011516442.1:n.1191+74_1191+77del
XM_011518141.2:c.1125+74_1125+77del XP_011516443.1:n.1125+74_1125+77del
XM_011518142.2:c.1029+74_1029+77del XP_011516444.1:n.1029+74_1029+77del
XM_011518143.2:c.1023+74_1023+77del XP_011516445.1:n.1023+74_1023+77del
XM_011518145.2:c.882+74_882+77del XP_011516447.1:n.882+74_882+77del
XM_017014205.2:c.141+74_141+77del XP_016869694.1:n.141+74_141+77del
XM_024447380.1:c.141+74_141+77del XP_024303148.1:n.141+74_141+77del
XM_024447381.1:c.447+74_447+77del XP_024303149.1:n.447+74_447+77del
XM_024447382.1:c.141+74_141+77del XP_024303150.1:n.141+74_141+77del
XR_001746160.2:n.1442+74_1442+77del
XR_001746162.2:n.1508+74_1508+77del
XR_001746164.1:n.1225+74_1225+77del
XR_001746166.2:n.1659+74_1659+77del
NM_001077365.2:c.1272+74_1272+77del MANE Select NP_001070833.1:n.1272+74_1272+77del
NM_001077366.2:c.1110+74_1110+77del NP_001070834.1:n.1110+74_1110+77del
NM_001136113.2:c.1272+74_1272+77del NP_001129585.1:n.1272+74_1272+77del
NM_001136114.2:c.921+74_921+77del NP_001129586.1:n.921+74_921+77del
NM_001353193.2:c.1338+74_1338+77del NP_001340122.2:n.1338+74_1338+77del
NM_001353194.2:c.1110+74_1110+77del NP_001340123.1:n.1110+74_1110+77del
NM_001353195.2:c.921+74_921+77del NP_001340124.1:n.921+74_921+77del
NM_001353196.2:c.1182+74_1182+77del NP_001340125.1:n.1182+74_1182+77del
NM_001353197.2:c.1176+74_1176+77del NP_001340126.2:n.1176+74_1176+77del
NM_001353198.2:c.1176+74_1176+77del NP_001340127.2:n.1176+74_1176+77del
NM_001353199.2:c.987+74_987+77del NP_001340128.2:n.987+74_987+77del
NM_001353200.2:c.816+74_816+77del NP_001340129.1:n.816+74_816+77del
NM_001374689.1:c.1260+74_1260+77del NP_001361618.1:n.1260+74_1260+77del
NM_001374690.1:c.1272+74_1272+77del NP_001361619.1:n.1272+74_1272+77del
NM_001374691.1:c.921+74_921+77del NP_001361620.1:n.921+74_921+77del
NM_001374692.1:c.921+74_921+77del NP_001361621.1:n.921+74_921+77del
NM_001374693.1:c.921+74_921+77del NP_001361622.1:n.921+74_921+77del
NM_001374695.1:c.882+74_882+77del NP_001361624.1:n.882+74_882+77del
NM_007171.4:c.1338+74_1338+77del NP_009102.4:n.1338+74_1338+77del
NR_148391.2:n.1306+74_1306+77del
NR_148392.2:n.1524+74_1524+77del
NR_148393.2:n.1306+74_1306+77del
NR_148394.2:n.1199+74_1199+77del
NR_148395.2:n.1458+74_1458+77del
NR_148396.2:n.1092+74_1092+77del
NR_148397.2:n.1356+74_1356+77del
NR_148398.2:n.1311+74_1311+77del
NR_148399.2:n.1698+74_1698+77del
NR_148400.2:n.1297+74_1297+77del
Search 100 bp 5'
Search 100 bp 3'