HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94047211_94047214del , CM000663.2:g.94047211_94047214del | GRCh38 |
NC_000001.10:g.94512767_94512770del , CM000663.1:g.94512767_94512770del | GRCh37 |
NC_000001.9:g.94285355_94285358del | NCBI36 |
NG_009073.1:g.78937_78940del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.2744-120_2744-117del MANE Select | ENSP00000359245.3:n.2744-120_2744-117del | |
ENST00000649773.1:c.2522-120_2522-117del | ENSP00000496882.1:n.2522-120_2522-117del | |
ENST00000370225.3:c.2744-120_2744-117del | ENSP00000359245.3:n.2744-120_2744-117del | |
ENST00000536513.5:c.-64-7124_-64-7121del | ENSP00000439707.2:n.-64-7124_-64-7121del | |
NM_000350.2:c.2744-120_2744-117del | NP_000341.2:n.2744-120_2744-117del | |
NM_000350.3:c.2744-120_2744-117del MANE Select | NP_000341.2:n.2744-120_2744-117del |