HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176118876_176118878del , CM000664.2:g.176118876_176118878del | GRCh38 |
NC_000002.11:g.176983604_176983606del , CM000664.1:g.176983604_176983606del | GRCh37 |
NC_000002.10:g.176691850_176691852del | NCBI36 |
NG_008133.2:g.12113_12115del , LRG_246:g.12113_12115del | |
NG_009225.1:g.1192_1194del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249501.5:c.746-78_746-76del MANE Select | ENSP00000249501.4:n.746-78_746-76del | |
ENST00000249501.4:c.746-78_746-76del | ENSP00000249501.4:n.746-78_746-76del | |
ENST00000490088.2:n.570-78_570-76del | ||
ENST00000549469.1:n.617-78_617-76del | ||
NM_002148.3:c.746-78_746-76del , LRG_246t1:c.746-78_746-76del | NP_002139.2:n.746-78_746-76del | |
NM_002148.4:c.746-78_746-76del MANE Select | NP_002139.2:n.746-78_746-76del |