Linked Data
ClinVar Variation Id:
372183
ClinVar RCV Id:
RCV000412638
dbSNP Id:
rs1057518743
PubMed:
PMID:26741492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845997del , CM000678.2:g.28845997del | GRCh38 |
| NC_000016.9:g.28857318del , CM000678.1:g.28857318del | GRCh37 |
| NC_000016.8:g.28764819del | NCBI36 |
| NG_008964.1:g.5412del | |
| NG_029706.2:g.4398del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313511.8:c.162del MANE Select | ENSP00000322439.3:p.Tyr54Ter | |
| ENST00000313511.7:c.162del | ENSP00000322439.3:p.Tyr54Ter | |
| ENST00000565012.1:c.162del | ENSP00000455007.1:p.Tyr54Ter | |
| NM_003321.4:c.162del | NP_003312.3:p.Tyr54Ter | |
| XM_011545928.1:c.162del | XP_011544230.1:p.Tyr54Ter | |
| NM_001365360.1:c.162del | NP_001352289.1:p.Tyr54Ter | |
| NM_003321.5:c.162del MANE Select | NP_003312.3:p.Tyr54Ter | |
| NM_001365360.2:c.162del | NP_001352289.1:p.Tyr54Ter |