HGVS | Genome Assembly |
---|---|
NC_000002.12:g.102532647del , CM000664.2:g.102532647del | GRCh38 |
NC_000002.11:g.103149106del , CM000664.1:g.103149106del | GRCh37 |
NC_000002.10:g.102515538del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295269.5:c.2356del MANE Select | ENSP00000295269.4:p.Asp786ThrfsTer? | |
ENST00000295269.4:c.2356del | ENSP00000295269.4:p.Asp786ThrfsTer? | |
NM_001011552.3:c.2356del | NP_001011552.2:p.Asp786ThrfsTer? | |
XM_011511158.1:c.2269del | XP_011509460.1:p.Asp757ThrfsTer? | |
NM_001011552.4:c.2356del MANE Select | NP_001011552.2:p.Asp786ThrfsTer? |