Canonical Allele Identifier: CA1129598048
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1948319497
gnomAD v3: 9-131515836-CCTCACACGGAGCACTTCCTCACAGGGAGCACTTT-C
gnomAD v4: 9-131515836-CCTCACACGGAGCACTTCCTCACAGGGAGCACTTT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515840_131515873del , CM000671.2:g.131515840_131515873del GRCh38
NC_000009.11:g.134391227_134391260del , CM000671.1:g.134391227_134391260del GRCh37
NC_000009.10:g.133381048_133381081del NCBI36
NG_008896.1:g.17939_17972del
NG_008896.2:g.17939_17972del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+318_1110+351del ENSP00000343034.7:n.1110+318_1110+351del
ENST00000404875.7:n.1812+318_1812+351del
ENST00000423007.6:c.1329+318_1329+351del ENSP00000404119.2:n.1329+318_1329+351del
ENST00000677295.2:c.*1616+318_*1616+351del ENSP00000504346.2:n.*1616+318_*1616+351del
ENST00000678264.2:c.*1455+318_*1455+351del ENSP00000503157.2:n.*1455+318_*1455+351del
ENST00000682070.1:n.1737+318_1737+351del
ENST00000682539.1:c.97+318_97+351del
ENST00000682813.1:n.1537+318_1537+351del
ENST00000683392.1:n.4019+318_4019+351del
ENST00000683712.1:n.1677+318_1677+351del
ENST00000683900.1:n.3172+318_3172+351del
ENST00000684062.1:n.1938+318_1938+351del
ENST00000684579.1:n.3118+318_3118+351del
ENST00000341012.12:c.1110+318_1110+351del ENSP00000343034.7:n.1110+318_1110+351del
ENST00000372220.5:c.141+318_141+351del ENSP00000361294.5:n.141+318_141+351del
ENST00000372228.9:c.1338+318_1338+351del ENSP00000361302.3:n.1338+318_1338+351del
ENST00000402686.8:c.1272+318_1272+351del MANE Select ENSP00000385797.4:n.1272+318_1272+351del
ENST00000676640.1:c.1272+318_1272+351del ENSP00000503281.1:n.1272+318_1272+351del
ENST00000676803.1:c.447+318_447+351del ENSP00000503093.1:n.447+318_447+351del
ENST00000676835.1:c.*487+318_*487+351del ENSP00000502911.1:n.*487+318_*487+351del
ENST00000677029.1:c.816+318_816+351del ENSP00000502936.1:n.816+318_816+351del
ENST00000677099.1:c.*982+318_*982+351del ENSP00000504553.1:n.*982+318_*982+351del
ENST00000677216.1:c.921+318_921+351del ENSP00000503772.1:n.921+318_921+351del
ENST00000677295.1:c.*649+318_*649+351del ENSP00000504346.1:n.*649+318_*649+351del
ENST00000677444.1:c.1078+318_1078+351del
ENST00000677586.1:n.753+318_753+351del
ENST00000677626.1:c.921+318_921+351del ENSP00000503552.1:n.921+318_921+351del
ENST00000677677.1:n.1232+318_1232+351del
ENST00000677853.1:c.*280+318_*280+351del ENSP00000503488.1:n.*280+318_*280+351del
ENST00000677944.1:c.534+318_534+351del
ENST00000678264.1:c.*649+318_*649+351del ENSP00000503157.1:n.*649+318_*649+351del
ENST00000678303.1:c.1182+318_1182+351del ENSP00000503696.1:n.1182+318_1182+351del
ENST00000678366.1:c.*1521+318_*1521+351del ENSP00000504353.1:n.*1521+318_*1521+351del
ENST00000678546.1:c.*1217+318_*1217+351del ENSP00000503062.1:n.*1217+318_*1217+351del
ENST00000678548.1:c.*1344+318_*1344+351del ENSP00000503934.1:n.*1344+318_*1344+351del
ENST00000678626.1:n.969+318_969+351del
ENST00000678733.1:c.353+318_353+351del
ENST00000678739.1:c.*1598+318_*1598+351del ENSP00000503806.1:n.*1598+318_*1598+351del
ENST00000678795.1:n.359+318_359+351del
ENST00000678833.1:c.*719+318_*719+351del ENSP00000503893.1:n.*719+318_*719+351del
ENST00000678942.1:c.452+318_452+351del ENSP00000504690.1:n.452+318_452+351del
ENST00000679023.1:c.1110+318_1110+351del ENSP00000503718.1:n.1110+318_1110+351del
ENST00000679076.1:c.891+318_891+351del
ENST00000679111.1:c.1272+318_1272+351del ENSP00000504257.1:n.1272+318_1272+351del
ENST00000679189.1:c.921+318_921+351del ENSP00000503356.1:n.921+318_921+351del
ENST00000341012.11:c.1110+318_1110+351del ENSP00000343034.7:n.1110+318_1110+351del
ENST00000372228.7:c.1338+318_1338+351del ENSP00000361302.3:n.1338+318_1338+351del
ENST00000402686.7:c.1272+318_1272+351del ENSP00000385797.3:n.1272+318_1272+351del
ENST00000404875.6:c.921+318_921+351del ENSP00000384531.2:n.921+318_921+351del
ENST00000423007.5:c.1272+318_1272+351del ENSP00000404119.1:n.1272+318_1272+351del
ENST00000485278.5:n.1827+318_1827+351del
NM_001077365.1:c.1272+318_1272+351del NP_001070833.1:n.1272+318_1272+351del
NM_001077366.1:c.1110+318_1110+351del NP_001070834.1:n.1110+318_1110+351del
NM_001136113.1:c.1272+318_1272+351del NP_001129585.1:n.1272+318_1272+351del
NM_001136114.1:c.921+318_921+351del NP_001129586.1:n.921+318_921+351del
NM_007171.3:c.1338+318_1338+351del NP_009102.3:n.1338+318_1338+351del
XM_005272156.1:c.1338+318_1338+351del XP_005272213.1:n.1338+318_1338+351del
XM_005272158.1:c.1176+318_1176+351del XP_005272215.1:n.1176+318_1176+351del
XM_005272159.1:c.987+318_987+351del XP_005272216.1:n.987+318_987+351del
XM_005272162.1:c.141+318_141+351del XP_005272219.1:n.141+318_141+351del
XM_006716932.1:c.987+318_987+351del XP_006716995.1:n.987+318_987+351del
XM_011518140.1:c.1191+318_1191+351del XP_011516442.1:n.1191+318_1191+351del
XM_011518141.1:c.1125+318_1125+351del XP_011516443.1:n.1125+318_1125+351del
XM_011518142.1:c.1029+318_1029+351del XP_011516444.1:n.1029+318_1029+351del
XM_011518143.1:c.1023+318_1023+351del XP_011516445.1:n.1023+318_1023+351del
XM_011518144.1:c.1338+318_1338+351del XP_011516446.1:n.1338+318_1338+351del
XM_011518145.1:c.882+318_882+351del XP_011516447.1:n.882+318_882+351del
XM_011518146.1:c.1023+318_1023+351del XP_011516448.1:n.1023+318_1023+351del
XR_929703.1:n.1514+318_1514+351del
NM_001353193.1:c.1338+318_1338+351del NP_001340122.1:n.1338+318_1338+351del
NM_001353194.1:c.1110+318_1110+351del NP_001340123.1:n.1110+318_1110+351del
NM_001353195.1:c.921+318_921+351del NP_001340124.1:n.921+318_921+351del
NM_001353196.1:c.1182+318_1182+351del NP_001340125.1:n.1182+318_1182+351del
NM_001353197.1:c.1176+318_1176+351del NP_001340126.1:n.1176+318_1176+351del
NM_001353198.1:c.1176+318_1176+351del NP_001340127.1:n.1176+318_1176+351del
NM_001353199.1:c.987+318_987+351del NP_001340128.1:n.987+318_987+351del
NM_001353200.1:c.816+318_816+351del NP_001340129.1:n.816+318_816+351del
NR_148391.1:n.1322+318_1322+351del
NR_148392.1:n.1540+318_1540+351del
NR_148393.1:n.1322+318_1322+351del
NR_148394.1:n.1215+318_1215+351del
NR_148395.1:n.1474+318_1474+351del
NR_148396.1:n.1108+318_1108+351del
NR_148397.1:n.1372+318_1372+351del
NR_148398.1:n.1327+318_1327+351del
NR_148399.1:n.1714+318_1714+351del
NR_148400.1:n.1313+318_1313+351del
XM_005272162.3:c.141+318_141+351del XP_005272219.1:n.141+318_141+351del
XM_006716932.2:c.987+318_987+351del XP_006716995.1:n.987+318_987+351del
XM_011518140.2:c.1191+318_1191+351del XP_011516442.1:n.1191+318_1191+351del
XM_011518141.2:c.1125+318_1125+351del XP_011516443.1:n.1125+318_1125+351del
XM_011518142.2:c.1029+318_1029+351del XP_011516444.1:n.1029+318_1029+351del
XM_011518143.2:c.1023+318_1023+351del XP_011516445.1:n.1023+318_1023+351del
XM_011518145.2:c.882+318_882+351del XP_011516447.1:n.882+318_882+351del
XM_017014205.2:c.141+318_141+351del XP_016869694.1:n.141+318_141+351del
XM_024447380.1:c.141+318_141+351del XP_024303148.1:n.141+318_141+351del
XM_024447381.1:c.447+318_447+351del XP_024303149.1:n.447+318_447+351del
XM_024447382.1:c.141+318_141+351del XP_024303150.1:n.141+318_141+351del
XR_001746160.2:n.1442+318_1442+351del
XR_001746162.2:n.1508+318_1508+351del
XR_001746164.1:n.1225+318_1225+351del
XR_001746166.2:n.1659+318_1659+351del
NM_001077365.2:c.1272+318_1272+351del MANE Select NP_001070833.1:n.1272+318_1272+351del
NM_001077366.2:c.1110+318_1110+351del NP_001070834.1:n.1110+318_1110+351del
NM_001136113.2:c.1272+318_1272+351del NP_001129585.1:n.1272+318_1272+351del
NM_001136114.2:c.921+318_921+351del NP_001129586.1:n.921+318_921+351del
NM_001353193.2:c.1338+318_1338+351del NP_001340122.2:n.1338+318_1338+351del
NM_001353194.2:c.1110+318_1110+351del NP_001340123.1:n.1110+318_1110+351del
NM_001353195.2:c.921+318_921+351del NP_001340124.1:n.921+318_921+351del
NM_001353196.2:c.1182+318_1182+351del NP_001340125.1:n.1182+318_1182+351del
NM_001353197.2:c.1176+318_1176+351del NP_001340126.2:n.1176+318_1176+351del
NM_001353198.2:c.1176+318_1176+351del NP_001340127.2:n.1176+318_1176+351del
NM_001353199.2:c.987+318_987+351del NP_001340128.2:n.987+318_987+351del
NM_001353200.2:c.816+318_816+351del NP_001340129.1:n.816+318_816+351del
NM_001374689.1:c.1260+318_1260+351del NP_001361618.1:n.1260+318_1260+351del
NM_001374690.1:c.1272+318_1272+351del NP_001361619.1:n.1272+318_1272+351del
NM_001374691.1:c.921+318_921+351del NP_001361620.1:n.921+318_921+351del
NM_001374692.1:c.921+318_921+351del NP_001361621.1:n.921+318_921+351del
NM_001374693.1:c.921+318_921+351del NP_001361622.1:n.921+318_921+351del
NM_001374695.1:c.882+318_882+351del NP_001361624.1:n.882+318_882+351del
NM_007171.4:c.1338+318_1338+351del NP_009102.4:n.1338+318_1338+351del
NR_148391.2:n.1306+318_1306+351del
NR_148392.2:n.1524+318_1524+351del
NR_148393.2:n.1306+318_1306+351del
NR_148394.2:n.1199+318_1199+351del
NR_148395.2:n.1458+318_1458+351del
NR_148396.2:n.1092+318_1092+351del
NR_148397.2:n.1356+318_1356+351del
NR_148398.2:n.1311+318_1311+351del
NR_148399.2:n.1698+318_1698+351del
NR_148400.2:n.1297+318_1297+351del
Search 100 bp 5'
Search 100 bp 3'