HGVS | Genome Assembly |
---|---|
NC_000002.12:g.27084912_27084914dup , CM000664.2:g.27084912_27084914dup | GRCh38 |
NC_000002.11:g.27307780_27307782dup , CM000664.1:g.27307780_27307782dup | GRCh37 |
NC_000002.10:g.27161284_27161286dup | NCBI36 |
NG_012199.1:g.3170_3172dup | |
NG_046849.1:g.11346_11348dup | |
NG_012199.2:g.3170_3172dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000380320.9:c.2558-79_2558-77dup MANE Select | ENSP00000369677.4:n.2558-79_2558-77dup | |
ENST00000380320.8:c.2558-79_2558-77dup | ENSP00000369677.4:n.2558-79_2558-77dup | |
ENST00000433140.1:c.550-79_550-77dup | ||
NM_007046.3:c.2558-79_2558-77dup | NP_008977.1:n.2558-79_2558-77dup | |
XM_006711928.2:c.2558-79_2558-77dup | XP_006711991.1:n.2558-79_2558-77dup | |
NM_007046.4:c.2558-79_2558-77dup MANE Select | NP_008977.1:n.2558-79_2558-77dup |