Linked Data
ClinVar Variation Id:
219182
ClinVar RCV Id:
RCV000257971
dbSNP Id:
rs886037765
PubMed:
PMID:27280866
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78515911del , CM000666.2:g.78515911del | GRCh38 |
| NC_000004.11:g.79437065del , CM000666.1:g.79437065del | GRCh37 |
| NC_000004.10:g.79656089del | NCBI36 |
| NG_015812.1:g.463342del | |
| NG_015812.2:g.463342del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512123.4:c.10287del MANE Select | ENSP00000422834.2:p.Tyr3429Ter | |
| ENST00000512123.3:c.10287del | ENSP00000422834.2:p.Tyr3429Ter | |
| NM_025074.6:c.10287del | NP_079350.5:p.Tyr3429Ter | |
| XM_006714314.1:c.10281del | XP_006714377.1:p.Tyr3427Ter | |
| XM_006714316.1:c.10059del | XP_006714379.1:p.Tyr3353Ter | |
| XM_011532270.1:c.7986del | XP_011530572.1:p.Tyr2662Ter | |
| XM_011532271.1:c.5175del | XP_011530573.1:p.Tyr1725Ter | |
| XM_006714316.3:c.10059del | XP_006714379.1:p.Tyr3353Ter | |
| NM_025074.7:c.10287del MANE Select | NP_079350.5:p.Tyr3429Ter |