HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122461967_122461968del , CM000672.2:g.122461967_122461968del | GRCh38 |
NC_000010.10:g.124221483_124221484del , CM000672.1:g.124221483_124221484del | GRCh37 |
NC_000010.9:g.124211473_124211474del | NCBI36 |
NG_011554.1:g.5443_5444del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.315_316del MANE Select | ENSP00000357980.3:p.Gln106GlyfsTer? | |
ENST00000648167.1:c.154+3258_154+3259del | ENSP00000498033.1:n.154+3258_154+3259del | |
ENST00000368984.7:c.315_316del | ENSP00000357980.3:p.Gln106GlyfsTer? | |
NM_002775.4:c.315_316del | NP_002766.1:p.Gln106GlyfsTer? | |
NM_002775.5:c.315_316del MANE Select | NP_002766.1:p.Gln106GlyfsTer? |