Linked Data
dbSNP Id:
rs1463636230
gnomAD v2:
20-3064871-TGGGCACA-T
gnomAD v3:
20-3084225-TGGGCACA-T
gnomAD v4:
20-3084225-TGGGCACA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3084229_3084235del , CM000682.2:g.3084229_3084235del | GRCh38 |
| NC_000020.10:g.3064875_3064881del , CM000682.1:g.3064875_3064881del | GRCh37 |
| NC_000020.9:g.3012875_3012881del | NCBI36 |
| NG_008663.1:g.5493_5499del , LRG_715:g.5493_5499del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.120+323_120+329del MANE Select | ENSP00000369647.3:n.120+323_120+329del | |
| NM_000490.4:c.120+323_120+329del , LRG_715t1:c.120+323_120+329del | NP_000481.2:n.120+323_120+329del | |
| XM_011529267.1:c.120+323_120+329del | XP_011527569.1:n.120+323_120+329del | |
| XM_011529267.2:c.120+323_120+329del | XP_011527569.1:n.120+323_120+329del | |
| NM_000490.5:c.120+323_120+329del MANE Select | NP_000481.2:n.120+323_120+329del |