Linked Data
gnomAD v4:
2-189046051-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189046053del , CM000664.2:g.189046053del | GRCh38 |
| NC_000002.11:g.189910779del , CM000664.1:g.189910779del | GRCh37 |
| NC_000002.10:g.189619024del | NCBI36 |
| NG_011799.1:g.138828del | |
| NG_011799.2:g.138828del | |
| NG_011799.3:g.184250del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3202-145del MANE Select | ENSP00000364000.3:n.3202-145del | |
| ENST00000374866.7:c.3202-145del | ENSP00000364000.3:n.3202-145del | |
| ENST00000618828.1:c.2041-145del | ENSP00000482184.1:n.2041-145del | |
| NM_000393.3:c.3202-145del | NP_000384.2:n.3202-145del | |
| XM_011510573.1:c.3064-145del | XP_011508875.1:n.3064-145del | |
| NM_000393.4:c.3202-145del | NP_000384.2:n.3202-145del | |
| XM_011510573.3:c.3064-145del | XP_011508875.1:n.3064-145del | |
| NM_000393.5:c.3202-145del MANE Select | NP_000384.2:n.3202-145del |