HGVS | Genome Assembly |
---|---|
NC_000007.14:g.1234169del , CM000669.2:g.1234169del | GRCh38 |
NC_000007.13:g.1273805del , CM000669.1:g.1273805del | GRCh37 |
NC_000007.12:g.1240331del | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000316333.9:c.450+474del MANE Select | ENSP00000314480.8:n.450+474del | |
ENST00000316333.8:c.450+474del | ENSP00000314480.8:n.450+474del | |
NM_001080461.1:c.450+474del | NP_001073930.1:n.450+474del | |
NM_001080461.2:c.450+474del | NP_001073930.1:n.450+474del | |
NM_001080461.3:c.450+474del MANE Select | NP_001073930.1:n.450+474del |