HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945874_138945884dup , CM000665.2:g.138945874_138945884dup | GRCh38 |
NC_000003.11:g.138664716_138664726dup , CM000665.1:g.138664716_138664726dup | GRCh37 |
NC_000003.10:g.140147406_140147416dup | NCBI36 |
NG_012454.1:g.6258_6268dup | |
NG_029796.1:g.3641_3651dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.840_850dup MANE Select | ENSP00000497217.1:p.Pro284ArgfsTer? | |
ENST00000330315.3:c.840_850dup | ENSP00000333188.3:p.Pro284ArgfsTer? | |
NM_023067.3:c.840_850dup | NP_075555.1:p.Pro284ArgfsTer? | |
NM_023067.4:c.840_850dup MANE Select | NP_075555.1:p.Pro284ArgfsTer? |