HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135790052_135790058del , CM000664.2:g.135790052_135790058del | GRCh38 |
NC_000002.11:g.136547622_136547628del , CM000664.1:g.136547622_136547628del | GRCh37 |
NC_000002.10:g.136264092_136264098del | NCBI36 |
NG_008104.2:g.70112_70118del , LRG_338:g.70112_70118del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.5336-260_5336-254del MANE Select | ENSP00000264162.2:n.5336-260_5336-254del | |
ENST00000264162.6:c.5336-260_5336-254del | ENSP00000264162.2:n.5336-260_5336-254del | |
NM_002299.2:c.5336-260_5336-254del , LRG_338t1:c.5336-260_5336-254del | NP_002290.2:n.5336-260_5336-254del | |
NM_002299.3:c.5336-260_5336-254del | NP_002290.2:n.5336-260_5336-254del | |
NM_002299.4:c.5336-260_5336-254del MANE Select | NP_002290.2:n.5336-260_5336-254del |