Linked Data
ClinVar Variation Id:
265390
dbSNP Id:
rs766425037
ExAC:
2:38301701 CA / C
gnomAD v2:
2-38301701-CA-C
gnomAD v3:
2-38074558-CA-C
gnomAD v4:
2-38074558-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38074560del , CM000664.2:g.38074560del | GRCh38 |
| NC_000002.11:g.38301703del , CM000664.1:g.38301703del | GRCh37 |
| NC_000002.10:g.38155207del | NCBI36 |
| NG_008386.2:g.6543del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.830del | ENSP00000478839.2:p.Leu277Ter | |
| ENST00000610745.5:c.830del MANE Select | ENSP00000478561.1:p.Leu277Ter | |
| ENST00000494864.1:c.-70-3249del | ENSP00000479876.1:n.-70-3249del | |
| ENST00000610745.4:c.830del | ENSP00000478561.1:p.Leu277Ter | |
| ENST00000613082.1:n.376-151del | ||
| ENST00000614273.1:c.830del | ENSP00000483678.1:p.Leu277Ter | |
| NM_000104.3:c.830del | NP_000095.2:p.Leu277Ter | |
| NM_000104.4:c.830del MANE Select | NP_000095.2:p.Leu277Ter |