Linked Data
ClinVar Variation Id:
225530
ClinVar RCV Id:
RCV000210916
dbSNP Id:
rs876657409
PubMed:
PMID:26216346
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.173366365del , CM000664.2:g.173366365del | GRCh38 |
| NC_000002.11:g.174231093del , CM000664.1:g.174231093del | GRCh37 |
| NC_000002.10:g.173939339del | NCBI36 |
| NG_047202.1:g.17349del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695901.1:c.798+773del | ENSP00000512251.1:n.798+773del | |
| ENST00000695911.1:c.896del | ENSP00000512262.1:n.896del | |
| ENST00000695912.1:c.1115del | ENSP00000512263.1:p.Gly372AlafsTer? | |
| ENST00000695913.1:c.*1871del | ENSP00000512264.1:n.*1871del | |
| ENST00000695914.1:c.878del | ENSP00000512265.1:p.Gly293AlafsTer? | |
| ENST00000695918.1:n.346del | ||
| ENST00000306721.8:c.1118del MANE Select | ENSP00000306968.3:p.Gly373AlafsTer? | |
| ENST00000306721.7:c.1118del | ENSP00000306968.3:p.Gly373AlafsTer? | |
| ENST00000347703.7:c.881del | ENSP00000272789.4:p.Gly294AlafsTer? | |
| ENST00000410019.3:c.755del | ENSP00000386833.3:p.Gly252AlafsTer? | |
| ENST00000410101.7:c.986del | ENSP00000386656.3:p.Gly329AlafsTer? | |
| ENST00000467411.5:n.1768+773del | ||
| ENST00000496441.5:n.1872del | ||
| NM_031942.4:c.1118del | NP_114148.3:p.Gly373AlafsTer? | |
| NM_145810.2:c.881del | NP_665809.1:p.Gly294AlafsTer? | |
| XM_011511957.1:c.1037del | XP_011510259.1:p.Gly346AlafsTer? | |
| XR_923034.1:n.2016del | ||
| NM_031942.5:c.1118del MANE Select | NP_114148.3:p.Gly373AlafsTer? | |
| NM_145810.3:c.881del | NP_665809.1:p.Gly294AlafsTer? |