Linked Data
ClinVar Variation Id:
208829
ClinVar RCV Id:
RCV000190849
dbSNP Id:
rs797045123
PubMed:
PMID:22541558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149923619del , CM000663.2:g.149923619del | GRCh38 |
| NC_000001.10:g.149895511del , CM000663.1:g.149895511del | GRCh37 |
| NC_000001.9:g.148162135del | NCBI36 |
| NG_032777.1:g.9635del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271628.9:c.1199del MANE Select | ENSP00000271628.8:p.Pro400LeufsTer? | |
| ENST00000271628.8:c.1199del | ENSP00000271628.8:p.Pro400LeufsTer? | |
| NM_005850.4:c.1199del | NP_005841.1:p.Pro400LeufsTer? | |
| NM_005850.5:c.1199del MANE Select | NP_005841.1:p.Pro400LeufsTer? |