HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159319997_159319999del , CM000667.2:g.159319997_159319999del | GRCh38 |
NC_000005.9:g.158747005_158747007del , CM000667.1:g.158747005_158747007del | GRCh37 |
NC_000005.8:g.158679583_158679585del | NCBI36 |
NG_009618.1:g.15475_15477del , LRG_71:g.15475_15477del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.67+307_67+309del | ENSP00000512849.1:n.67+307_67+309del | |
ENST00000696751.1:c.*192+307_*192+309del | ENSP00000512850.1:n.*192+307_*192+309del | |
ENST00000231228.3:c.697+307_697+309del MANE Select | ENSP00000231228.2:n.697+307_697+309del | |
ENST00000231228.2:c.697+307_697+309del | ENSP00000231228.2:n.697+307_697+309del | |
NM_002187.2:c.697+307_697+309del , LRG_71t1:c.697+307_697+309del | NP_002178.2:n.697+307_697+309del | |
NM_002187.3:c.697+307_697+309del MANE Select | NP_002178.2:n.697+307_697+309del |