HGVS | Genome Assembly |
---|---|
NC_000008.11:g.64624545dup , CM000670.2:g.64624545dup | GRCh38 |
NC_000008.10:g.65537102dup , CM000670.1:g.65537102dup | GRCh37 |
NC_000008.9:g.65699656dup | NCBI36 |
NG_008338.1:g.179248dup | |
NG_008338.2:g.179248dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310193.4:c.123-5dup MANE Select | ENSP00000310721.3:n.123-5dup | |
ENST00000310193.3:c.123-5dup | ENSP00000310721.3:n.123-5dup | |
NM_004820.3:c.123-5dup | NP_004811.1:n.123-5dup | |
NM_001324112.1:c.123-5dup | NP_001311041.1:n.123-5dup | |
NM_004820.4:c.123-5dup | NP_004811.1:n.123-5dup | |
XM_017014002.1:c.189-5dup | XP_016869491.1:n.189-5dup | |
NM_004820.5:c.123-5dup MANE Select | NP_004811.1:n.123-5dup | |
NM_001324112.2:c.123-5dup | NP_001311041.1:n.123-5dup |