Linked Data
gnomAD v4:
1-20648522-G-GTGATCGCAGATTTTGGCTGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20648525_20648544dup , CM000663.2:g.20648525_20648544dup | GRCh38 |
| NC_000001.10:g.20975018_20975037dup , CM000663.1:g.20975018_20975037dup | GRCh37 |
| NC_000001.9:g.20847605_20847624dup | NCBI36 |
| NG_008164.1:g.20071_20090dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321556.5:c.1144_1163dup (PINK1) MANE Select | ENSP00000364204.3:p.Cys388Ter | |
| ENST00000321556.4:c.1144_1163dup (PINK1) | ENSP00000364204.3:p.Cys388Ter | |
| ENST00000400490.2:n.237_256dup (PINK1) | ||
| ENST00000492302.1:n.2232_2251dup (PINK1) | ||
| NM_032409.2:c.1144_1163dup (PINK1) | NP_115785.1:p.Cys388Ter | |
| NR_046507.1:n.3652_3671dup (PINK1-AS) | ||
| NM_032409.3:c.1144_1163dup (PINK1) MANE Select | NP_115785.1:p.Cys388Ter |