Linked Data
ClinVar Variation Id:
65460
ClinVar RCV Id:
RCV000055654
dbSNP Id:
rs786205127
PubMed:
PMID:23830514
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3518181del , CM000666.2:g.3518181del | GRCh38 |
| NC_000004.11:g.3519908del , CM000666.1:g.3519908del | GRCh37 |
| NC_000004.10:g.3489706del | NCBI36 |
| NG_033873.1:g.19318del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648517.1:c.605del | ENSP00000496947.1:p.Asn202ThrfsTer8 | |
| ENST00000650182.1:c.605del MANE Select | ENSP00000497444.1:p.Asn202ThrfsTer8 | |
| ENST00000296325.9:n.568del | ||
| ENST00000500728.2:c.605del | ENSP00000421922.1:p.Asn202ThrfsTer8 | |
| ENST00000509198.1:n.651del | ||
| ENST00000515119.5:c.*382del | ENSP00000421648.1:n.*382del | |
| NM_002337.3:c.605del | NP_002328.1:p.Asn202ThrfsTer8 | |
| NR_110005.1:n.568del | ||
| NM_002337.4:c.605del MANE Select | NP_002328.1:p.Asn202ThrfsTer8 | |
| XR_002959730.1:n.690del | ||
| NR_110005.2:n.568del |