HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135028929_135028963del , CM000667.2:g.135028929_135028963del | GRCh38 |
NC_000005.9:g.134364619_134364653del , CM000667.1:g.134364619_134364653del | GRCh37 |
NC_000005.8:g.134392518_134392552del | NCBI36 |
NG_012114.1:g.10316_10350del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000265340.12:c.765_799del MANE Select | ENSP00000265340.6:p.Ala256ArgfsTer? | |
ENST00000265340.11:c.765_799del | ENSP00000265340.6:p.Ala256ArgfsTer? | |
ENST00000506438.5:c.765_799del | ENSP00000427542.1:p.Ala256ArgfsTer? | |
NM_002653.4:c.765_799del | NP_002644.4:p.Ala256ArgfsTer? | |
NM_002653.5:c.765_799del MANE Select | NP_002644.4:p.Ala256ArgfsTer? |