HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138946024_138946047del , CM000665.2:g.138946024_138946047del | GRCh38 |
NC_000003.11:g.138664866_138664889del , CM000665.1:g.138664866_138664889del | GRCh37 |
NC_000003.10:g.140147556_140147579del | NCBI36 |
NG_012454.1:g.6096_6119del | |
NG_029796.1:g.3791_3814del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.678_701del MANE Select | ENSP00000497217.1:p.Ala227_Ala234del | |
ENST00000330315.3:c.678_701del | ENSP00000333188.3:p.Ala227_Ala234del | |
NM_023067.3:c.678_701del | NP_075555.1:p.Ala227_Ala234del | |
NM_023067.4:c.678_701del MANE Select | NP_075555.1:p.Ala227_Ala234del |