Linked Data
ClinVar Variation Id:
371637
ClinVar RCV Id:
RCV000409889
dbSNP Id:
rs1057517428
gnomAD v4:
21-44286683-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286684del , CM000683.2:g.44286684del | GRCh38 |
| NC_000021.8:g.45706567del , CM000683.1:g.45706567del | GRCh37 |
| NC_000021.7:g.44530995del | NCBI36 |
| NG_009556.1:g.5805del , LRG_18:g.5805del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291582.6:c.260del MANE Select | ENSP00000291582.5:p.Leu87ArgfsTer? | |
| ENST00000291582.5:c.260del | ENSP00000291582.5:p.Leu87ArgfsTer? | |
| ENST00000527919.5:n.421del | ||
| ENST00000530812.5:n.429del | ||
| NM_000383.3:c.260del | NP_000374.1:p.Leu87ArgfsTer? | |
| XM_011529551.1:c.260del | XP_011527853.1:p.Leu87ArgfsTer? | |
| NM_000383.4:c.260del MANE Select | NP_000374.1:p.Leu87ArgfsTer? |