HGVS | Genome Assembly |
---|---|
NC_000013.11:g.40644443_40644444dup , CM000675.2:g.40644443_40644444dup | GRCh38 |
NC_000013.10:g.41218580_41218581dup , CM000675.1:g.41218580_41218581dup | GRCh37 |
NC_000013.9:g.40116580_40116581dup | NCBI36 |
NG_023244.1:g.27155_27156dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379561.6:c.630+21140_630+21141dup MANE Select | ENSP00000368880.4:n.630+21140_630+21141dup | |
ENST00000655267.1:n.333+21140_333+21141dup | ||
ENST00000660760.1:n.296-11195_296-11194dup | ||
ENST00000379561.5:c.630+21140_630+21141dup | ENSP00000368880.4:n.630+21140_630+21141dup | |
NM_002015.3:c.630+21140_630+21141dup | NP_002006.2:n.630+21140_630+21141dup | |
XR_941536.1:n.1226+896_1226+897dup | ||
NM_002015.4:c.630+21140_630+21141dup MANE Select | NP_002006.2:n.630+21140_630+21141dup |