HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31659909_31659910del , CM000683.2:g.31659909_31659910del | GRCh38 |
NC_000021.8:g.33032222_33032223del , CM000683.1:g.33032222_33032223del | GRCh37 |
NC_000021.7:g.31954093_31954094del | NCBI36 |
NG_008689.1:g.5288_5289del , LRG_652:g.5288_5289del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.72+68_72+69del MANE Select | ENSP00000270142.7:n.72+68_72+69del | |
ENST00000270142.10:c.72+68_72+69del | ENSP00000270142.6:n.72+68_72+69del | |
ENST00000389995.4:c.15+125_15+126del | ENSP00000374645.4:n.15+125_15+126del | |
ENST00000470944.1:n.201_202del | ||
ENST00000476106.5:n.149+68_149+69del | ||
NM_000454.4:c.72+68_72+69del , LRG_652t1:c.72+68_72+69del | NP_000445.1:n.72+68_72+69del | |
NM_000454.5:c.72+68_72+69del MANE Select | NP_000445.1:n.72+68_72+69del |