HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176118870_176118881del , CM000664.2:g.176118870_176118881del | GRCh38 |
NC_000002.11:g.176983598_176983609del , CM000664.1:g.176983598_176983609del | GRCh37 |
NC_000002.10:g.176691844_176691855del | NCBI36 |
NG_008133.2:g.12107_12118del , LRG_246:g.12107_12118del | |
NG_009225.1:g.1186_1197del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249501.5:c.746-84_746-73del MANE Select | ENSP00000249501.4:n.746-84_746-73del | |
ENST00000249501.4:c.746-84_746-73del | ENSP00000249501.4:n.746-84_746-73del | |
ENST00000490088.2:n.570-84_570-73del | ||
ENST00000549469.1:n.617-84_617-73del | ||
NM_002148.3:c.746-84_746-73del , LRG_246t1:c.746-84_746-73del | NP_002139.2:n.746-84_746-73del | |
NM_002148.4:c.746-84_746-73del MANE Select | NP_002139.2:n.746-84_746-73del |