HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58280275dup , CM000679.2:g.58280275dup | GRCh38 |
NC_000017.10:g.56357636dup , CM000679.1:g.56357636dup | GRCh37 |
NC_000017.9:g.53712635dup | NCBI36 |
NG_009629.1:g.5665dup , LRG_84:g.5665dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000225275.4:c.248+95dup MANE Select | ENSP00000225275.3:n.248+95dup | |
ENST00000225275.3:c.248+95dup | ENSP00000225275.3:n.248+95dup | |
ENST00000580005.1:n.259+13dup | ||
NM_000250.1:c.248+95dup , LRG_84t1:c.248+95dup | NP_000241.1:n.248+95dup | |
XM_011524821.1:c.434+95dup | XP_011523123.1:n.434+95dup | |
XM_011524822.1:c.-37-257dup | XP_011523124.1:n.-37-257dup | |
XM_011524823.1:c.434+95dup | XP_011523125.1:n.434+95dup | |
NM_000250.2:c.248+95dup MANE Select | NP_000241.1:n.248+95dup |