Linked Data
ClinVar Variation Id:
212454
ClinVar RCV Id:
RCV000193834
dbSNP Id:
rs797046057
gnomAD v3:
17-75521899-AG-A
gnomAD v4:
17-75521899-AG-A
COSMIC:
COSM5992024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75521904del , CM000679.2:g.75521904del | GRCh38 |
| NC_000017.10:g.73517985del , CM000679.1:g.73517985del | GRCh37 |
| NC_000017.9:g.71029580del | NCBI36 |
| NG_013041.1:g.10377del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333213.11:c.823del MANE Select | ENSP00000327487.6:p.Val275TrpfsTer? | |
| ENST00000434205.8:c.520del | ENSP00000406559.4:p.Val174TrpfsTer? | |
| ENST00000545228.3:c.823del | ENSP00000438169.3:p.Val275TrpfsTer? | |
| ENST00000579449.2:n.622del | ||
| ENST00000580013.6:n.1026del | ||
| ENST00000679370.1:n.1404del | ||
| ENST00000679429.1:c.*281del | ENSP00000505403.1:n.*281del | |
| ENST00000679443.1:n.892del | ||
| ENST00000679782.1:c.823del | ENSP00000505995.1:p.Val275TrpfsTer? | |
| ENST00000679919.1:n.892del | ||
| ENST00000679928.1:c.*434del | ENSP00000506071.1:n.*434del | |
| ENST00000680528.1:n.848del | ||
| ENST00000680999.1:c.823del | ENSP00000504984.1:p.Val275TrpfsTer? | |
| ENST00000681282.1:c.*69del | ENSP00000506339.1:n.*69del | |
| ENST00000333213.10:c.823del | ENSP00000327487.6:p.Val275TrpfsTer? | |
| ENST00000578415.1:c.783del | ||
| ENST00000583173.5:c.459-103del | ENSP00000463619.1:n.459-103del | |
| NM_207346.2:c.823del | NP_997229.2:p.Val275TrpfsTer? | |
| XM_005257229.2:c.823del | XP_005257286.1:p.Val275TrpfsTer? | |
| XM_006721821.2:c.520del | XP_006721884.1:p.Val174TrpfsTer? | |
| XM_011524616.1:c.823del | XP_011522918.1:p.Val275TrpfsTer? | |
| XM_011524617.1:c.823del | XP_011522919.1:p.Val275TrpfsTer? | |
| XM_011524618.1:c.823del | XP_011522920.1:p.Val275TrpfsTer? | |
| XR_243646.2:n.853del | ||
| XM_005257229.4:c.823del | XP_005257286.1:p.Val275TrpfsTer? | |
| XR_243646.4:n.859del | ||
| NM_207346.3:c.823del MANE Select | NP_997229.2:p.Val275TrpfsTer? |