HGVS | Genome Assembly |
---|---|
NC_000005.10:g.178994531del , CM000667.2:g.178994531del | GRCh38 |
NC_000005.9:g.178421532del , CM000667.1:g.178421532del | GRCh37 |
NC_000005.8:g.178354138del | NCBI36 |
NG_008105.1:g.5596del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000517717.3:c.417del MANE Select | ENSP00000430767.1:p.Ala140ArgfsTer? | |
ENST00000650031.1:c.417del | ENSP00000497110.1:p.Ala140ArgfsTer? | |
ENST00000231188.9:c.417del | ENSP00000231188.5:p.Ala140ArgfsTer? | |
ENST00000517717.1:c.417del | ENSP00000430767.1:p.Ala140ArgfsTer? | |
NM_000843.3:c.417del | NP_000834.2:p.Ala140ArgfsTer? | |
NM_000843.4:c.417del MANE Select | NP_000834.2:p.Ala140ArgfsTer? |