HGVS | Genome Assembly |
---|---|
NC_000019.10:g.615965_615970dup , CM000681.2:g.615965_615970dup | GRCh38 |
NC_000019.9:g.615965_615970dup , CM000681.1:g.615965_615970dup | GRCh37 |
NC_000019.8:g.566965_566970dup | NCBI36 |
NG_023049.1:g.22600_22605dup | |
NG_052810.1:g.31073_31078dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251287.3:c.2161_2166dup MANE Select | ENSP00000251287.1:p.Gln722_Val723insProGln | |
ENST00000251287.2:c.2161_2166dup | ENSP00000251287.1:p.Gln722_Val723insProGln | |
NM_001194.3:c.2161_2166dup | NP_001185.3:p.Gln722_Val723insProGln | |
NM_001194.4:c.2161_2166dup MANE Select | NP_001185.3:p.Gln722_Val723insProGln |