Identifiers and link-outs to other resources
ClinVar Variation Id:
53636
ClinVar RCV Id:
RCV000046765
dbSNP Id:
rs121908781
User contributed link-outs
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117610569del , CM000669.2:g.117610569del | GRCh38 |
| NC_000007.13:g.117250623del , CM000669.1:g.117250623del | GRCh37 |
| NC_000007.12:g.117037859del | NCBI36 |
| NG_016465.4:g.149786del , LRG_663:g.149786del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_000492.3:c.3039del , LRG_663t1:c.3039del | NP_000483.3:p.Tyr1014ThrfsTer9 | |
| XM_011515751.1:c.3129del | XP_011514053.1:p.Tyr1044ThrfsTer9 | |
| XM_011515752.1:c.3129del | XP_011514054.1:p.Tyr1044ThrfsTer9 | |
| XM_011515753.1:c.2796del | XP_011514055.1:p.Tyr933ThrfsTer9 | |
| XM_011515754.1:c.2796del | XP_011514056.1:p.Tyr933ThrfsTer9 | |
| ENST00000003084.10:c.3039del | ENSP00000003084.6:p.Tyr1014ThrfsTer9 | |
| ENST00000426809.5:n.2949del | ENSP00000389119.1:p.Tyr984ThrfsTer9 |