Linked Data
ClinVar Variation Id:
625473
ClinVar RCV Id:
RCV000767412
dbSNP Id:
rs1565626826
PubMed:
PMID:23033978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49185026del , CM000674.2:g.49185026del | GRCh38 |
| NC_000012.11:g.49578809del , CM000674.1:g.49578809del | GRCh37 |
| NC_000012.10:g.47865076del | NCBI36 |
| NG_008966.1:g.9054del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.1341del MANE Select | ENSP00000301071.7:p.Gly448GlufsTer? | |
| ENST00000547939.6:c.1236del | ENSP00000450268.2:p.Gly413GlufsTer? | |
| ENST00000550767.6:c.1236del | ENSP00000446637.1:p.Gly413GlufsTer? | |
| ENST00000550811.2:n.2374del | ||
| ENST00000552924.2:c.1236del | ENSP00000448725.2:p.Gly413GlufsTer? | |
| ENST00000679733.1:c.*797del | ENSP00000505459.1:n.*797del | |
| ENST00000295766.9:c.1341del | ENSP00000439020.2:p.Gly448GlufsTer? | |
| ENST00000301071.11:c.1341del | ENSP00000301071.7:p.Gly448GlufsTer? | |
| ENST00000550767.5:c.1236del | ENSP00000446637.1:p.Gly413GlufsTer? | |
| NM_001270399.1:c.1341del | NP_001257328.1:p.Gly448GlufsTer? | |
| NM_001270400.1:c.1236del | NP_001257329.1:p.Gly413GlufsTer? | |
| NM_006009.3:c.1341del | NP_006000.2:p.Gly448GlufsTer? | |
| NM_006009.4:c.1341del MANE Select | NP_006000.2:p.Gly448GlufsTer? | |
| NM_001270399.2:c.1341del | NP_001257328.1:p.Gly448GlufsTer? | |
| NM_001270400.2:c.1236del | NP_001257329.1:p.Gly413GlufsTer? |