Linked Data
ClinVar Variation Id:
2149776
ClinVar RCV Id:
RCV003065654
dbSNP Id:
rs994997761
gnomAD v3:
14-28767435-CCACCAT-C
gnomAD v4:
14-28767435-CCACCAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767441_28767446del , CM000676.2:g.28767441_28767446del | GRCh38 |
| NC_000014.8:g.29236647_29236652del , CM000676.1:g.29236647_29236652del | GRCh37 |
| NC_000014.7:g.28306398_28306403del | NCBI36 |
| NG_009367.1:g.5361_5366del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.162_167del | ENSP00000516406.1:p.His55_His56del | |
| ENST00000313071.7:c.162_167del MANE Select | ENSP00000339004.3:p.His55_His56del | |
| ENST00000313071.6:c.162_167del | ENSP00000339004.3:p.His55_His56del | |
| NM_005249.4:c.162_167del | NP_005240.3:p.His55_His56del | |
| NM_005249.5:c.162_167del MANE Select | NP_005240.3:p.His55_His56del |