Linked Data
ClinVar Variation Id:
944413
ClinVar RCV Id:
RCV001214808
dbSNP Id:
rs1946327824
gnomAD v3:
11-119093174-GGCCCCAGTTGGCT-G
gnomAD v4:
11-119093174-GGCCCCAGTTGGCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119093179_119093191del , CM000673.2:g.119093179_119093191del | GRCh38 |
| NC_000011.9:g.118963889_118963901del , CM000673.1:g.118963889_118963901del | GRCh37 |
| NC_000011.8:g.118469099_118469111del | NCBI36 |
| NG_008093.1:g.13303_13315del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.817_829del | ENSP00000509288.1:p.Gln273ArgfsTer12 | |
| ENST00000691144.1:n.3197_3209del | ||
| ENST00000691249.1:n.1806_1818del | ||
| ENST00000442944.7:c.964_976del | ENSP00000392041.3:p.Gln322ArgfsTer12 | |
| ENST00000640813.1:c.*219_*231del | ENSP00000491061.1:n.*219_*231del | |
| ENST00000648026.1:c.876_888del | ENSP00000498044.1:n.876_888del | |
| ENST00000648374.1:c.931_943del | ENSP00000497255.1:p.Gln311ArgfsTer12 | |
| ENST00000650101.1:c.913_925del | ENSP00000496970.1:p.Gln305ArgfsTer12 | |
| ENST00000650307.1:n.1808_1820del | ||
| ENST00000652429.1:c.982_994del MANE Select | ENSP00000498786.1:p.Gln328ArgfsTer12 | |
| ENST00000278715.7:c.982_994del | ENSP00000278715.3:p.Gln328ArgfsTer12 | |
| ENST00000392841.1:c.931_943del | ENSP00000376584.1:p.Gln311ArgfsTer12 | |
| ENST00000442944.6:c.931_943del | ENSP00000392041.2:p.Gln311ArgfsTer12 | |
| ENST00000537841.5:c.931_943del | ENSP00000444730.1:p.Gln311ArgfsTer12 | |
| ENST00000539045.1:n.481_493del | ||
| ENST00000542044.5:n.1427_1439del | ||
| ENST00000542729.5:c.811_823del | ENSP00000443058.1:p.Gln271ArgfsTer12 | |
| ENST00000543090.5:c.889_901del | ENSP00000445429.1:p.Gln297ArgfsTer12 | |
| ENST00000543543.5:n.1457_1469del | ||
| ENST00000544182.1:n.1431_1443del | ||
| ENST00000544387.5:c.862_874del | ENSP00000438424.1:p.Gln288ArgfsTer12 | |
| ENST00000546226.5:n.1744_1756del | ||
| NM_000190.3:c.982_994del | NP_000181.2:p.Gln328ArgfsTer12 | |
| NM_001024382.1:c.931_943del | NP_001019553.1:p.Gln311ArgfsTer12 | |
| NM_001258208.1:c.862_874del | NP_001245137.1:p.Gln288ArgfsTer12 | |
| NM_001258209.1:c.811_823del | NP_001245138.1:p.Gln271ArgfsTer12 | |
| XM_005271531.1:c.931_943del | XP_005271588.1:p.Gln311ArgfsTer12 | |
| XM_005271532.1:c.931_943del | XP_005271589.1:p.Gln311ArgfsTer12 | |
| XM_005271533.2:c.928_940del | XP_005271590.1:p.Gln310ArgfsTer12 | |
| XM_011542796.1:c.817_829del | XP_011541098.1:p.Gln273ArgfsTer12 | |
| NM_000190.4:c.982_994del MANE Select | NP_000181.2:p.Gln328ArgfsTer12 | |
| NM_001024382.2:c.931_943del | NP_001019553.1:p.Gln311ArgfsTer12 | |
| XM_005271533.3:c.928_940del | XP_005271590.1:p.Gln310ArgfsTer12 | |
| XM_017017629.1:c.931_943del | XP_016873118.1:p.Gln311ArgfsTer12 | |
| XM_024448460.1:c.808_820del | XP_024304228.1:p.Gln270ArgfsTer12 | |
| NM_001258208.2:c.862_874del | NP_001245137.1:p.Gln288ArgfsTer12 | |
| NM_001258209.2:c.811_823del | NP_001245138.1:p.Gln271ArgfsTer12 |