HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176118898_176118902del , CM000664.2:g.176118898_176118902del | GRCh38 |
NC_000002.11:g.176983626_176983630del , CM000664.1:g.176983626_176983630del | GRCh37 |
NC_000002.10:g.176691872_176691876del | NCBI36 |
NG_008133.2:g.12135_12139del , LRG_246:g.12135_12139del | |
NG_009225.1:g.1214_1218del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249501.5:c.746-56_746-52del MANE Select | ENSP00000249501.4:n.746-56_746-52del | |
ENST00000249501.4:c.746-56_746-52del | ENSP00000249501.4:n.746-56_746-52del | |
ENST00000490088.2:n.570-56_570-52del | ||
ENST00000549469.1:n.617-56_617-52del | ||
NM_002148.3:c.746-56_746-52del , LRG_246t1:c.746-56_746-52del | NP_002139.2:n.746-56_746-52del | |
NM_002148.4:c.746-56_746-52del MANE Select | NP_002139.2:n.746-56_746-52del |