Linked Data
ClinVar Variation Id:
17597
ClinVar RCV Id:
RCV000019163
dbSNP Id:
rs387906561
PubMed:
PMID:16704458
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12694103del , CM000671.2:g.12694103del | GRCh38 |
| NC_000009.11:g.12694103del , CM000671.1:g.12694103del | GRCh37 |
| NC_000009.10:g.12684103del | NCBI36 |
| NG_011705.1:g.5718del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388918.10:c.107del MANE Select | ENSP00000373570.4:p.Leu36Ter | |
| ENST00000388918.9:c.107del | ENSP00000373570.4:p.Leu36Ter | |
| ENST00000459790.1:n.362del | ||
| ENST00000473763.1:c.107del | ENSP00000419006.1:p.Leu36Ter | |
| NM_000550.2:c.107del | NP_000541.1:p.Leu36Ter | |
| XR_001746372.2:n.296del | ||
| NM_000550.3:c.107del MANE Select | NP_000541.1:p.Leu36Ter |