Linked Data
dbSNP Id:
rs1595837378
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367762_73367770del , CM000677.2:g.73367762_73367770del | GRCh38 |
| NC_000015.9:g.73660103_73660111del , CM000677.1:g.73660103_73660111del | GRCh37 |
| NC_000015.8:g.71447156_71447164del | NCBI36 |
| NG_009063.1:g.6498_6506del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.504_512del MANE Select | ENSP00000261917.3:p.Gln169_Pro171del | |
| ENST00000261917.3:c.504_512del | ENSP00000261917.3:p.Gln169_Pro171del | |
| NM_005477.2:c.504_512del | NP_005468.1:p.Gln169_Pro171del | |
| NM_005477.3:c.504_512del MANE Select | NP_005468.1:p.Gln169_Pro171del |