Linked Data
dbSNP Id:
rs1390700611
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085780del , CM000666.2:g.186085780del | GRCh38 |
| NC_000004.11:g.187006934del , CM000666.1:g.187006934del | GRCh37 |
| NC_000004.10:g.187243928del | NCBI36 |
| NG_007278.1:g.21626del , LRG_117:g.21626del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*3174del | ENSP00000513675.1:n.*3174del | |
| ENST00000698353.1:n.3497del | ||
| ENST00000698354.1:c.*907del | ENSP00000513676.1:n.*907del | |
| ENST00000296795.8:c.*907del MANE Select | ENSP00000296795.3:n.*907del | |
| ENST00000296795.7:c.*907del | ENSP00000296795.2:n.*907del | |
| NM_003265.3:c.*907del MANE Select | NP_003256.1:n.*907del |