HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58782451_58782453dup , CM000663.2:g.58782451_58782453dup | GRCh38 |
NC_000001.10:g.59248123_59248125dup , CM000663.1:g.59248123_59248125dup | GRCh37 |
NC_000001.9:g.59020711_59020713dup | NCBI36 |
NG_047027.1:g.6666_6668dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000710273.1:c.689_691dup | ENSP00000518166.1:p.Pro230_His231insPro | |
ENST00000371222.4:c.623_625dup MANE Select | ENSP00000360266.2:p.Pro208_His209insPro | |
ENST00000678696.1:c.623_625dup | ENSP00000503132.1:p.Pro208_His209insPro | |
ENST00000371222.3:c.623_625dup | ENSP00000360266.2:p.Pro208_His209insPro | |
NM_002228.3:c.623_625dup | NP_002219.1:p.Pro208_His209insPro | |
NM_002228.4:c.623_625dup MANE Select | NP_002219.1:p.Pro208_His209insPro |