Linked Data
ClinVar Variation Id:
52988
ClinVar RCV Id:
RCV000577134
dbSNP Id:
rs397508095
PubMed:
PMID:16414944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2768868del , CM000673.2:g.2768868del | GRCh38 |
| NC_000011.9:g.2790098del , CM000673.1:g.2790098del | GRCh37 |
| NC_000011.8:g.2746674del | NCBI36 |
| NG_008935.1:g.328878del , LRG_287:g.328878del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1182del | ENSP00000434560.2:p.Ile395LeufsTer? | |
| ENST00000646564.2:c.999del | ENSP00000495806.2:p.Ile334LeufsTer? | |
| ENST00000155840.12:c.1539del MANE Select | ENSP00000155840.2:p.Ile514LeufsTer? | |
| ENST00000335475.6:c.1158del | ENSP00000334497.5:p.Ile387LeufsTer? | |
| ENST00000646564.1:c.645del | ENSP00000495806.1:p.Ile216LeufsTer? | |
| ENST00000155840.9:c.1539del | ENSP00000155840.2:p.Ile514LeufsTer? | |
| ENST00000335475.5:c.1158del | ENSP00000334497.5:p.Ile387LeufsTer? | |
| NM_000218.2:c.1539del , LRG_287t1:c.1539del | NP_000209.2:p.Ile514LeufsTer? | |
| NM_181798.1:c.1158del , LRG_287t2:c.1158del | NP_861463.1:p.Ile387LeufsTer? | |
| NM_000218.3:c.1539del MANE Select | NP_000209.2:p.Ile514LeufsTer? |