Linked Data
ClinVar Variation Id:
53620
ClinVar RCV Id:
RCV000577236
dbSNP Id:
rs397508475
PubMed:
PMID:18456578
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117610528del , CM000669.2:g.117610528del | GRCh38 |
| NC_000007.13:g.117250582del , CM000669.1:g.117250582del | GRCh37 |
| NC_000007.12:g.117037818del | NCBI36 |
| NG_016465.4:g.149745del , LRG_663:g.149745del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2998del | ENSP00000497673.2:p.Ile1000LeufsTer2 | |
| ENST00000647978.2:c.*2712del | ENSP00000497658.1:n.*2712del | |
| ENST00000649781.2:c.2815del | ENSP00000497203.1:p.Ile939LeufsTer2 | |
| ENST00000685018.2:c.2998del | ENSP00000510194.2:p.Ile1000LeufsTer2 | |
| ENST00000687278.2:c.2998del | ENSP00000509593.2:p.Ile1000LeufsTer2 | |
| ENST00000699585.1:c.2998del | ENSP00000514456.1:p.Ile1000LeufsTer2 | |
| ENST00000699598.1:c.2998del | ENSP00000514467.1:p.Ile1000LeufsTer2 | |
| ENST00000699599.1:c.2998del | ENSP00000514468.1:p.Ile1000LeufsTer2 | |
| ENST00000699600.1:c.2998del | ENSP00000514469.1:p.Ile1000LeufsTer2 | |
| ENST00000699601.1:c.*1298del | ENSP00000514470.1:n.*1298del | |
| ENST00000699602.1:c.2998del | ENSP00000514471.1:p.Ile1000LeufsTer2 | |
| ENST00000699604.1:c.*2822del | ENSP00000514472.1:n.*2822del | |
| ENST00000699605.1:c.2572del | ENSP00000514473.1:p.Ile858LeufsTer2 | |
| ENST00000687278.1:c.589del | ENSP00000509593.1:p.Ile197LeufsTer2 | |
| ENST00000003084.11:c.2998del MANE Select | ENSP00000003084.6:p.Ile1000LeufsTer2 | |
| ENST00000647720.1:c.648del | ||
| ENST00000648260.1:c.1780del | ENSP00000497957.1:p.Ile594LeufsTer2 | |
| ENST00000649406.1:c.2815del | ENSP00000497965.1:p.Ile939LeufsTer2 | |
| ENST00000649781.1:c.2815del | ENSP00000497203.1:p.Ile939LeufsTer2 | |
| ENST00000003084.10:c.2998del | ENSP00000003084.6:p.Ile1000LeufsTer2 | |
| ENST00000426809.5:c.2908del | ENSP00000389119.1:p.Ile970LeufsTer2 | |
| NM_000492.3:c.2998del , LRG_663t1:c.2998del | NP_000483.3:p.Ile1000LeufsTer2 | |
| XM_011515751.1:c.3088del | XP_011514053.1:p.Ile1030LeufsTer2 | |
| XM_011515752.1:c.3088del | XP_011514054.1:p.Ile1030LeufsTer2 | |
| XM_011515753.1:c.2755del | XP_011514055.1:p.Ile919LeufsTer2 | |
| XM_011515754.1:c.2755del | XP_011514056.1:p.Ile919LeufsTer2 | |
| NM_000492.4:c.2998del MANE Select | NP_000483.3:p.Ile1000LeufsTer2 |