HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945883_138945972del , CM000665.2:g.138945883_138945972del | GRCh38 |
NC_000003.11:g.138664725_138664814del , CM000665.1:g.138664725_138664814del | GRCh37 |
NC_000003.10:g.140147415_140147504del | NCBI36 |
NG_012454.1:g.6177_6266del | |
NG_029796.1:g.3650_3739del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.759_848del MANE Select | ENSP00000497217.1:p.Ser254_Ala283del | |
ENST00000330315.3:c.759_848del | ENSP00000333188.3:p.Ser254_Ala283del | |
NM_023067.3:c.759_848del | NP_075555.1:p.Ser254_Ala283del | |
NM_023067.4:c.759_848del MANE Select | NP_075555.1:p.Ser254_Ala283del |