Linked Data
ClinVar Variation Id:
205503
ClinVar RCV Id:
RCV000187479
dbSNP Id:
rs796052477
gnomAD v4:
14-28767675-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767678del , CM000676.2:g.28767678del | GRCh38 |
| NC_000014.8:g.29236884del , CM000676.1:g.29236884del | GRCh37 |
| NC_000014.7:g.28306635del | NCBI36 |
| NG_009367.1:g.5598del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.399del | ENSP00000516406.1:p.Pro134ArgfsTer? | |
| ENST00000313071.7:c.399del MANE Select | ENSP00000339004.3:p.Pro134ArgfsTer? | |
| ENST00000313071.6:c.399del | ENSP00000339004.3:p.Pro134ArgfsTer? | |
| NM_005249.4:c.399del | NP_005240.3:p.Pro134ArgfsTer? | |
| NM_005249.5:c.399del MANE Select | NP_005240.3:p.Pro134ArgfsTer? |