Linked Data
ClinVar Variation Id:
596511
ClinVar RCV Id:
RCV000732377
dbSNP Id:
rs763418954
ExAC:
15:89872012 CT / C
gnomAD v2:
15-89872012-CT-C
gnomAD v4:
15-89328781-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89328782del , CM000677.2:g.89328782del | GRCh38 |
| NC_000015.9:g.89872013del , CM000677.1:g.89872013del | GRCh37 |
| NC_000015.8:g.87673017del | NCBI36 |
| NG_008218.1:g.11014del | |
| NG_008218.2:g.11014del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1073del | ENSP00000516154.1:p.Glu358GlyfsTer7 | |
| ENST00000268124.11:c.1073del MANE Select | ENSP00000268124.5:p.Glu358GlyfsTer7 | |
| ENST00000530292.3:c.674del | ENSP00000432885.2:p.Glu225GlyfsTer7 | |
| ENST00000635986.2:c.1073del | ENSP00000490653.2:p.Glu358GlyfsTer7 | |
| ENST00000636774.1:c.1073del | ENSP00000489799.1:p.Glu358GlyfsTer7 | |
| ENST00000637264.1:c.145del | ||
| ENST00000666746.1:c.730del | ||
| ENST00000672071.1:n.1271del | ||
| ENST00000672923.2:n.70del | ||
| ENST00000268124.9:c.1073del | ENSP00000268124.5:p.Glu358GlyfsTer7 | |
| ENST00000442287.6:c.1073del | ENSP00000399851.2:p.Glu358GlyfsTer7 | |
| ENST00000631044.2:c.*456del | ENSP00000486730.1:n.*456del | |
| NM_001126131.1:c.1073del | NP_001119603.1:p.Glu358GlyfsTer7 | |
| NM_002693.2:c.1073del | NP_002684.1:p.Glu358GlyfsTer7 | |
| NM_001126131.2:c.1073del | NP_001119603.1:p.Glu358GlyfsTer7 | |
| NM_002693.3:c.1073del MANE Select | NP_002684.1:p.Glu358GlyfsTer7 |