HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38070946_38070957del , CM000664.2:g.38070946_38070957del | GRCh38 |
NC_000002.11:g.38298089_38298100del , CM000664.1:g.38298089_38298100del | GRCh37 |
NC_000002.10:g.38151593_38151604del | NCBI36 |
NG_008386.2:g.10148_10159del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000490576.2:c.1400_1411del | ENSP00000478839.2:p.Lys467_Cys470del | |
ENST00000610745.5:c.1400_1411del MANE Select | ENSP00000478561.1:p.Lys467_Cys470del | |
ENST00000494864.1:c.287_298del | ENSP00000479876.1:p.Lys96_Cys99del | |
ENST00000610745.4:c.1400_1411del | ENSP00000478561.1:p.Lys467_Cys470del | |
ENST00000614273.1:c.1400_1411del | ENSP00000483678.1:p.Lys467_Cys470del | |
NM_000104.3:c.1400_1411del | NP_000095.2:p.Lys467_Cys470del | |
NM_000104.4:c.1400_1411del MANE Select | NP_000095.2:p.Lys467_Cys470del |