Linked Data
ClinVar Variation Id:
631786
ClinVar RCV Id:
RCV000778514
dbSNP Id:
rs1567940040
gnomAD v4:
17-74920191-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920193del , CM000679.2:g.74920193del | GRCh38 |
| NC_000017.10:g.72916288del , CM000679.1:g.72916288del | GRCh37 |
| NC_000017.9:g.70427883del | NCBI36 |
| NG_007882.1:g.8065del | |
| NG_033062.1:g.919del | |
| NG_007882.2:g.8072del | |
| NG_033062.2:g.919del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.644del MANE Select | ENSP00000480279.1:p.Lys215ArgfsTer? | |
| ENST00000579243.1:c.*243del | ENSP00000462568.1:n.*243del | |
| ENST00000614341.4:c.644del | ENSP00000480279.1:p.Lys215ArgfsTer? | |
| NM_001282489.2:c.335del | NP_001269418.1:p.Lys112ArgfsTer? | |
| NM_173477.4:c.644del | NP_775748.2:p.Lys215ArgfsTer? | |
| XM_011524296.1:c.335del | XP_011522598.1:p.Lys112ArgfsTer? | |
| XM_011524296.2:c.335del | XP_011522598.1:p.Lys112ArgfsTer? | |
| NM_173477.5:c.644del MANE Select | NP_775748.2:p.Lys215ArgfsTer? | |
| NM_001282489.3:c.335del | NP_001269418.1:p.Lys112ArgfsTer? |