Linked Data
ClinVar Variation Id:
956739
ClinVar RCV Id:
RCV001229602
dbSNP Id:
rs1407093112
gnomAD v2:
11-118963844-CCA-C
gnomAD v4:
11-119093134-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119093137_119093138del , CM000673.2:g.119093137_119093138del | GRCh38 |
| NC_000011.9:g.118963847_118963848del , CM000673.1:g.118963847_118963848del | GRCh37 |
| NC_000011.8:g.118469057_118469058del | NCBI36 |
| NG_008093.1:g.13261_13262del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.775_776del | ENSP00000509288.1:p.Gln259ValfsTer8 | |
| ENST00000691144.1:n.3155_3156del | ||
| ENST00000691249.1:n.1764_1765del | ||
| ENST00000442944.7:c.922_923del | ENSP00000392041.3:p.Gln308ValfsTer8 | |
| ENST00000640813.1:c.*177_*178del | ENSP00000491061.1:n.*177_*178del | |
| ENST00000648026.1:c.834_835del | ENSP00000498044.1:n.834_835del | |
| ENST00000648374.1:c.889_890del | ENSP00000497255.1:p.Gln297ValfsTer8 | |
| ENST00000650101.1:c.871_872del | ENSP00000496970.1:p.Gln291ValfsTer8 | |
| ENST00000650307.1:n.1766_1767del | ||
| ENST00000652429.1:c.940_941del MANE Select | ENSP00000498786.1:p.Gln314ValfsTer8 | |
| ENST00000278715.7:c.940_941del | ENSP00000278715.3:p.Gln314ValfsTer8 | |
| ENST00000392841.1:c.889_890del | ENSP00000376584.1:p.Gln297ValfsTer8 | |
| ENST00000442944.6:c.889_890del | ENSP00000392041.2:p.Gln297ValfsTer8 | |
| ENST00000537841.5:c.889_890del | ENSP00000444730.1:p.Gln297ValfsTer8 | |
| ENST00000539045.1:n.439_440del | ||
| ENST00000542044.5:n.1385_1386del | ||
| ENST00000542729.5:c.769_770del | ENSP00000443058.1:p.Gln257ValfsTer8 | |
| ENST00000543090.5:c.847_848del | ENSP00000445429.1:p.Gln283ValfsTer8 | |
| ENST00000543543.5:n.1415_1416del | ||
| ENST00000544182.1:n.1389_1390del | ||
| ENST00000544387.5:c.820_821del | ENSP00000438424.1:p.Gln274ValfsTer8 | |
| ENST00000546226.5:n.1702_1703del | ||
| NM_000190.3:c.940_941del | NP_000181.2:p.Gln314ValfsTer8 | |
| NM_001024382.1:c.889_890del | NP_001019553.1:p.Gln297ValfsTer8 | |
| NM_001258208.1:c.820_821del | NP_001245137.1:p.Gln274ValfsTer8 | |
| NM_001258209.1:c.769_770del | NP_001245138.1:p.Gln257ValfsTer8 | |
| XM_005271531.1:c.889_890del | XP_005271588.1:p.Gln297ValfsTer8 | |
| XM_005271532.1:c.889_890del | XP_005271589.1:p.Gln297ValfsTer8 | |
| XM_005271533.2:c.886_887del | XP_005271590.1:p.Gln296ValfsTer8 | |
| XM_011542796.1:c.775_776del | XP_011541098.1:p.Gln259ValfsTer8 | |
| NM_000190.4:c.940_941del MANE Select | NP_000181.2:p.Gln314ValfsTer8 | |
| NM_001024382.2:c.889_890del | NP_001019553.1:p.Gln297ValfsTer8 | |
| XM_005271533.3:c.886_887del | XP_005271590.1:p.Gln296ValfsTer8 | |
| XM_017017629.1:c.889_890del | XP_016873118.1:p.Gln297ValfsTer8 | |
| XM_024448460.1:c.766_767del | XP_024304228.1:p.Gln256ValfsTer8 | |
| NM_001258208.2:c.820_821del | NP_001245137.1:p.Gln274ValfsTer8 | |
| NM_001258209.2:c.769_770del | NP_001245138.1:p.Gln257ValfsTer8 |