Linked Data
gnomAD v4:
1-20648460-GGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20648462_20648464del , CM000663.2:g.20648462_20648464del | GRCh38 |
| NC_000001.10:g.20974955_20974957del , CM000663.1:g.20974955_20974957del | GRCh37 |
| NC_000001.9:g.20847542_20847544del | NCBI36 |
| NG_008164.1:g.20008_20010del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.1124-43_1124-41del (PINK1) MANE Select | ENSP00000364204.3:n.1124-43_1124-41del | |
| ENST00000321556.4:c.1124-43_1124-41del (PINK1) | ENSP00000364204.3:n.1124-43_1124-41del | |
| ENST00000400490.2:n.217-43_217-41del (PINK1) | ||
| ENST00000492302.1:n.2212-43_2212-41del (PINK1) | ||
| NM_032409.2:c.1124-43_1124-41del (PINK1) | NP_115785.1:n.1124-43_1124-41del | |
| NR_046507.1:n.3731_3733del (PINK1-AS) | ||
| NM_032409.3:c.1124-43_1124-41del (PINK1) MANE Select | NP_115785.1:n.1124-43_1124-41del |