HGVS | Genome Assembly |
---|---|
NC_000013.11:g.40644174_40644175dup , CM000675.2:g.40644174_40644175dup | GRCh38 |
NC_000013.10:g.41218311_41218312dup , CM000675.1:g.41218311_41218312dup | GRCh37 |
NC_000013.9:g.40116311_40116312dup | NCBI36 |
NG_023244.1:g.27423_27424dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379561.6:c.630+21408_630+21409dup MANE Select | ENSP00000368880.4:n.630+21408_630+21409dup | |
ENST00000655267.1:n.333+21408_333+21409dup | ||
ENST00000660760.1:n.296-10927_296-10926dup | ||
ENST00000379561.5:c.630+21408_630+21409dup | ENSP00000368880.4:n.630+21408_630+21409dup | |
NM_002015.3:c.630+21408_630+21409dup | NP_002006.2:n.630+21408_630+21409dup | |
XR_941536.1:n.1226+1164_1226+1165dup | ||
NM_002015.4:c.630+21408_630+21409dup MANE Select | NP_002006.2:n.630+21408_630+21409dup |