HGVS | Genome Assembly |
---|---|
NC_000001.11:g.20645446_20645447dup , CM000663.2:g.20645446_20645447dup | GRCh38 |
NC_000001.10:g.20971939_20971940dup , CM000663.1:g.20971939_20971940dup | GRCh37 |
NC_000001.9:g.20844526_20844527dup | NCBI36 |
NG_008164.1:g.16992_16993dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000321556.5:c.960-114_960-113dup (PINK1) MANE Select | ENSP00000364204.3:n.960-114_960-113dup | |
ENST00000321556.4:c.960-114_960-113dup (PINK1) | ENSP00000364204.3:n.960-114_960-113dup | |
ENST00000492302.1:n.2048-114_2048-113dup (PINK1) | ||
NM_032409.2:c.960-114_960-113dup (PINK1) | NP_115785.1:n.960-114_960-113dup | |
NR_046507.1:n.3981+138_3981+139dup (PINK1-AS) | ||
NM_032409.3:c.960-114_960-113dup (PINK1) MANE Select | NP_115785.1:n.960-114_960-113dup |