Canonical Allele Identifier: CA590753281
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1564367225
gnomAD v2: 9-134391230-CGGAGCACTTCCTCACAGGGAGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT-C
gnomAD v3: 9-131515843-CGGAGCACTTCCTCACAGGGAGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT-C
gnomAD v4: 9-131515843-CGGAGCACTTCCTCACAGGGAGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT-C
MyVariant Identifiers: chr9:g.134391231_134391300del (hg19) chr9:g.131515844_131515913del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515870_131515939del , CM000671.2:g.131515870_131515939del GRCh38
NC_000009.11:g.134391257_134391326del , CM000671.1:g.134391257_134391326del GRCh37
NC_000009.10:g.133381078_133381147del NCBI36
NG_008896.1:g.17969_18038del
NG_008896.2:g.17969_18038del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+348_1110+417del ENSP00000343034.7:n.1110+348_1110+417del
ENST00000404875.7:n.1812+348_1812+417del
ENST00000423007.6:c.1329+348_1329+417del ENSP00000404119.2:n.1329+348_1329+417del
ENST00000677295.2:c.*1616+348_*1616+417del ENSP00000504346.2:n.*1616+348_*1616+417del
ENST00000678264.2:c.*1455+348_*1455+417del ENSP00000503157.2:n.*1455+348_*1455+417del
ENST00000682070.1:n.1737+348_1737+417del
ENST00000682539.1:c.97+348_97+417del
ENST00000682813.1:n.1537+348_1537+417del
ENST00000683392.1:n.4019+348_4019+417del
ENST00000683712.1:n.1677+348_1677+417del
ENST00000683900.1:n.3172+348_3172+417del
ENST00000684062.1:n.1938+348_1938+417del
ENST00000684579.1:n.3118+348_3118+417del
ENST00000341012.12:c.1110+348_1110+417del ENSP00000343034.7:n.1110+348_1110+417del
ENST00000372220.5:c.141+348_141+417del ENSP00000361294.5:n.141+348_141+417del
ENST00000372228.9:c.1338+348_1338+417del ENSP00000361302.3:n.1338+348_1338+417del
ENST00000402686.8:c.1272+348_1272+417del MANE Select ENSP00000385797.4:n.1272+348_1272+417del
ENST00000676640.1:c.1272+348_1272+417del ENSP00000503281.1:n.1272+348_1272+417del
ENST00000676803.1:c.447+348_447+417del ENSP00000503093.1:n.447+348_447+417del
ENST00000676835.1:c.*487+348_*487+417del ENSP00000502911.1:n.*487+348_*487+417del
ENST00000677029.1:c.816+348_816+417del ENSP00000502936.1:n.816+348_816+417del
ENST00000677099.1:c.*982+348_*982+417del ENSP00000504553.1:n.*982+348_*982+417del
ENST00000677216.1:c.921+348_921+417del ENSP00000503772.1:n.921+348_921+417del
ENST00000677295.1:c.*649+348_*649+417del ENSP00000504346.1:n.*649+348_*649+417del
ENST00000677444.1:c.1078+348_1078+417del
ENST00000677586.1:n.753+348_753+417del
ENST00000677626.1:c.921+348_921+417del ENSP00000503552.1:n.921+348_921+417del
ENST00000677677.1:n.1232+348_1232+417del
ENST00000677853.1:c.*280+348_*280+417del ENSP00000503488.1:n.*280+348_*280+417del
ENST00000677944.1:c.534+348_534+417del
ENST00000678264.1:c.*649+348_*649+417del ENSP00000503157.1:n.*649+348_*649+417del
ENST00000678303.1:c.1182+348_1182+417del ENSP00000503696.1:n.1182+348_1182+417del
ENST00000678366.1:c.*1521+348_*1521+417del ENSP00000504353.1:n.*1521+348_*1521+417del
ENST00000678546.1:c.*1217+348_*1217+417del ENSP00000503062.1:n.*1217+348_*1217+417del
ENST00000678548.1:c.*1344+348_*1344+417del ENSP00000503934.1:n.*1344+348_*1344+417del
ENST00000678626.1:n.969+348_969+417del
ENST00000678733.1:c.353+348_353+417del
ENST00000678739.1:c.*1598+348_*1598+417del ENSP00000503806.1:n.*1598+348_*1598+417del
ENST00000678795.1:n.359+348_359+417del
ENST00000678833.1:c.*719+348_*719+417del ENSP00000503893.1:n.*719+348_*719+417del
ENST00000678942.1:c.452+348_452+417del ENSP00000504690.1:n.452+348_452+417del
ENST00000679023.1:c.1110+348_1110+417del ENSP00000503718.1:n.1110+348_1110+417del
ENST00000679076.1:c.891+348_891+417del
ENST00000679111.1:c.1272+348_1272+417del ENSP00000504257.1:n.1272+348_1272+417del
ENST00000679189.1:c.921+348_921+417del ENSP00000503356.1:n.921+348_921+417del
ENST00000341012.11:c.1110+348_1110+417del ENSP00000343034.7:n.1110+348_1110+417del
ENST00000372228.7:c.1338+348_1338+417del ENSP00000361302.3:n.1338+348_1338+417del
ENST00000402686.7:c.1272+348_1272+417del ENSP00000385797.3:n.1272+348_1272+417del
ENST00000404875.6:c.921+348_921+417del ENSP00000384531.2:n.921+348_921+417del
ENST00000423007.5:c.1272+348_1272+417del ENSP00000404119.1:n.1272+348_1272+417del
ENST00000485278.5:n.1827+348_1827+417del
NM_001077365.1:c.1272+348_1272+417del NP_001070833.1:n.1272+348_1272+417del
NM_001077366.1:c.1110+348_1110+417del NP_001070834.1:n.1110+348_1110+417del
NM_001136113.1:c.1272+348_1272+417del NP_001129585.1:n.1272+348_1272+417del
NM_001136114.1:c.921+348_921+417del NP_001129586.1:n.921+348_921+417del
NM_007171.3:c.1338+348_1338+417del NP_009102.3:n.1338+348_1338+417del
XM_005272156.1:c.1338+348_1338+417del XP_005272213.1:n.1338+348_1338+417del
XM_005272158.1:c.1176+348_1176+417del XP_005272215.1:n.1176+348_1176+417del
XM_005272159.1:c.987+348_987+417del XP_005272216.1:n.987+348_987+417del
XM_005272162.1:c.141+348_141+417del XP_005272219.1:n.141+348_141+417del
XM_006716932.1:c.987+348_987+417del XP_006716995.1:n.987+348_987+417del
XM_011518140.1:c.1191+348_1191+417del XP_011516442.1:n.1191+348_1191+417del
XM_011518141.1:c.1125+348_1125+417del XP_011516443.1:n.1125+348_1125+417del
XM_011518142.1:c.1029+348_1029+417del XP_011516444.1:n.1029+348_1029+417del
XM_011518143.1:c.1023+348_1023+417del XP_011516445.1:n.1023+348_1023+417del
XM_011518144.1:c.1338+348_1338+417del XP_011516446.1:n.1338+348_1338+417del
XM_011518145.1:c.882+348_882+417del XP_011516447.1:n.882+348_882+417del
XM_011518146.1:c.1023+348_1023+417del XP_011516448.1:n.1023+348_1023+417del
XR_929703.1:n.1514+348_1514+417del
NM_001353193.1:c.1338+348_1338+417del NP_001340122.1:n.1338+348_1338+417del
NM_001353194.1:c.1110+348_1110+417del NP_001340123.1:n.1110+348_1110+417del
NM_001353195.1:c.921+348_921+417del NP_001340124.1:n.921+348_921+417del
NM_001353196.1:c.1182+348_1182+417del NP_001340125.1:n.1182+348_1182+417del
NM_001353197.1:c.1176+348_1176+417del NP_001340126.1:n.1176+348_1176+417del
NM_001353198.1:c.1176+348_1176+417del NP_001340127.1:n.1176+348_1176+417del
NM_001353199.1:c.987+348_987+417del NP_001340128.1:n.987+348_987+417del
NM_001353200.1:c.816+348_816+417del NP_001340129.1:n.816+348_816+417del
NR_148391.1:n.1322+348_1322+417del
NR_148392.1:n.1540+348_1540+417del
NR_148393.1:n.1322+348_1322+417del
NR_148394.1:n.1215+348_1215+417del
NR_148395.1:n.1474+348_1474+417del
NR_148396.1:n.1108+348_1108+417del
NR_148397.1:n.1372+348_1372+417del
NR_148398.1:n.1327+348_1327+417del
NR_148399.1:n.1714+348_1714+417del
NR_148400.1:n.1313+348_1313+417del
XM_005272162.3:c.141+348_141+417del XP_005272219.1:n.141+348_141+417del
XM_006716932.2:c.987+348_987+417del XP_006716995.1:n.987+348_987+417del
XM_011518140.2:c.1191+348_1191+417del XP_011516442.1:n.1191+348_1191+417del
XM_011518141.2:c.1125+348_1125+417del XP_011516443.1:n.1125+348_1125+417del
XM_011518142.2:c.1029+348_1029+417del XP_011516444.1:n.1029+348_1029+417del
XM_011518143.2:c.1023+348_1023+417del XP_011516445.1:n.1023+348_1023+417del
XM_011518145.2:c.882+348_882+417del XP_011516447.1:n.882+348_882+417del
XM_017014205.2:c.141+348_141+417del XP_016869694.1:n.141+348_141+417del
XM_024447380.1:c.141+348_141+417del XP_024303148.1:n.141+348_141+417del
XM_024447381.1:c.447+348_447+417del XP_024303149.1:n.447+348_447+417del
XM_024447382.1:c.141+348_141+417del XP_024303150.1:n.141+348_141+417del
XR_001746160.2:n.1442+348_1442+417del
XR_001746162.2:n.1508+348_1508+417del
XR_001746164.1:n.1225+348_1225+417del
XR_001746166.2:n.1659+348_1659+417del
NM_001077365.2:c.1272+348_1272+417del MANE Select NP_001070833.1:n.1272+348_1272+417del
NM_001077366.2:c.1110+348_1110+417del NP_001070834.1:n.1110+348_1110+417del
NM_001136113.2:c.1272+348_1272+417del NP_001129585.1:n.1272+348_1272+417del
NM_001136114.2:c.921+348_921+417del NP_001129586.1:n.921+348_921+417del
NM_001353193.2:c.1338+348_1338+417del NP_001340122.2:n.1338+348_1338+417del
NM_001353194.2:c.1110+348_1110+417del NP_001340123.1:n.1110+348_1110+417del
NM_001353195.2:c.921+348_921+417del NP_001340124.1:n.921+348_921+417del
NM_001353196.2:c.1182+348_1182+417del NP_001340125.1:n.1182+348_1182+417del
NM_001353197.2:c.1176+348_1176+417del NP_001340126.2:n.1176+348_1176+417del
NM_001353198.2:c.1176+348_1176+417del NP_001340127.2:n.1176+348_1176+417del
NM_001353199.2:c.987+348_987+417del NP_001340128.2:n.987+348_987+417del
NM_001353200.2:c.816+348_816+417del NP_001340129.1:n.816+348_816+417del
NM_001374689.1:c.1260+348_1260+417del NP_001361618.1:n.1260+348_1260+417del
NM_001374690.1:c.1272+348_1272+417del NP_001361619.1:n.1272+348_1272+417del
NM_001374691.1:c.921+348_921+417del NP_001361620.1:n.921+348_921+417del
NM_001374692.1:c.921+348_921+417del NP_001361621.1:n.921+348_921+417del
NM_001374693.1:c.921+348_921+417del NP_001361622.1:n.921+348_921+417del
NM_001374695.1:c.882+348_882+417del NP_001361624.1:n.882+348_882+417del
NM_007171.4:c.1338+348_1338+417del NP_009102.4:n.1338+348_1338+417del
NR_148391.2:n.1306+348_1306+417del
NR_148392.2:n.1524+348_1524+417del
NR_148393.2:n.1306+348_1306+417del
NR_148394.2:n.1199+348_1199+417del
NR_148395.2:n.1458+348_1458+417del
NR_148396.2:n.1092+348_1092+417del
NR_148397.2:n.1356+348_1356+417del
NR_148398.2:n.1311+348_1311+417del
NR_148399.2:n.1698+348_1698+417del
NR_148400.2:n.1297+348_1297+417del
Search 100 bp 5'
Search 100 bp 3'