HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14716930_14716933dup , CM000667.2:g.14716930_14716933dup | GRCh38 |
NC_000005.9:g.14717039_14717042dup , CM000667.1:g.14717039_14717042dup | GRCh37 |
NC_000005.8:g.14770039_14770042dup | NCBI36 |
NG_008273.1:g.159848_159851dup | |
NG_008273.2:g.159855_159858dup | |
NG_051625.1:g.61137_61140dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.1012-96_1012-93dup MANE Select | ENSP00000284268.6:n.1012-96_1012-93dup | |
ENST00000284268.6:c.1012-96_1012-93dup | ENSP00000284268.6:n.1012-96_1012-93dup | |
ENST00000502585.1:n.158_161dup | ||
NM_054027.4:c.1012-96_1012-93dup | NP_473368.1:n.1012-96_1012-93dup | |
NM_054027.5:c.1012-96_1012-93dup | NP_473368.1:n.1012-96_1012-93dup | |
XM_017009644.2:c.928-96_928-93dup | XP_016865133.1:n.928-96_928-93dup | |
NM_054027.6:c.1012-96_1012-93dup MANE Select | NP_473368.1:n.1012-96_1012-93dup |