HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169555149_169555152dup , CM000663.2:g.169555149_169555152dup | GRCh38 |
NC_000001.10:g.169524387_169524390dup , CM000663.1:g.169524387_169524390dup | GRCh37 |
NC_000001.9:g.167791011_167791014dup | NCBI36 |
NG_011806.1:g.36380_36383dup , LRG_553:g.36380_36383dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367797.9:c.1118+30_1118+33dup MANE Select | ENSP00000356771.3:n.1118+30_1118+33dup | |
ENST00000367796.3:c.1118+30_1118+33dup | ENSP00000356770.3:n.1118+30_1118+33dup | |
ENST00000367797.7:c.1118+30_1118+33dup | ENSP00000356771.3:n.1118+30_1118+33dup | |
NM_000130.4:c.1118+30_1118+33dup , LRG_553t1:c.1118+30_1118+33dup | NP_000121.2:n.1118+30_1118+33dup | |
XM_017000660.2:c.707+30_707+33dup | XP_016856149.1:n.707+30_707+33dup | |
NM_000130.5:c.1118+30_1118+33dup MANE Select | NP_000121.2:n.1118+30_1118+33dup |