Linked Data
dbSNP Id:
rs2108750474
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532614_129532615del , CM000665.2:g.129532614_129532615del | GRCh38 |
| NC_000003.11:g.129251457_129251458del , CM000665.1:g.129251457_129251458del | GRCh37 |
| NC_000003.10:g.130734147_130734148del | NCBI36 |
| NG_009115.1:g.8976_8977del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.778_779del MANE Select | ENSP00000296271.3:p.Ala260PhefsTer? | |
| ENST00000296271.3:c.778_779del | ENSP00000296271.3:p.Ala260PhefsTer? | |
| NM_000539.3:c.778_779del MANE Select | NP_000530.1:p.Ala260PhefsTer? |