HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73323792_73323793del , CM000677.2:g.73323792_73323793del | GRCh38 |
NC_000015.9:g.73616133_73616134del , CM000677.1:g.73616133_73616134del | GRCh37 |
NC_000015.8:g.71403186_71403187del | NCBI36 |
NG_009063.1:g.50472_50473del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261917.4:c.2300_2301del MANE Select | ENSP00000261917.3:p.Pro767HisfsTer? | |
ENST00000261917.3:c.2300_2301del | ENSP00000261917.3:p.Pro767HisfsTer? | |
NM_005477.2:c.2300_2301del | NP_005468.1:p.Pro767HisfsTer? | |
XM_011521148.1:c.1082_1083del | XP_011519450.1:p.Pro361HisfsTer? | |
XM_011521148.2:c.1082_1083del | XP_011519450.1:p.Pro361HisfsTer? | |
NM_005477.3:c.2300_2301del MANE Select | NP_005468.1:p.Pro767HisfsTer? |