Linked Data
ClinVar Variation Id:
14417
ClinVar RCV Id:
RCV000030900
dbSNP Id:
rs587777758
PubMed:
PMID:19535795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.25423317dup , CM000670.2:g.25423317dup | GRCh38 |
| NC_000008.10:g.25280833dup , CM000670.1:g.25280833dup | GRCh37 |
| NC_000008.9:g.25336750dup | NCBI36 |
| NG_016457.1:g.6728dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421054.7:c.18dup MANE Select | ENSP00000391280.2:p.Leu7ThrfsTer? | |
| ENST00000276414.4:c.18dup | ENSP00000276414.4:p.Leu7ThrfsTer? | |
| ENST00000421054.6:c.18dup | ENSP00000391280.2:p.Leu7ThrfsTer? | |
| NM_000825.3:c.30dup | NP_000816.4:p.Leu11ThrfsTer? | |
| NM_001083111.1:c.18dup | NP_001076580.1:p.Leu7ThrfsTer? | |
| NM_001083111.2:c.18dup MANE Select | NP_001076580.1:p.Leu7ThrfsTer? |