Linked Data
dbSNP Id:
rs1248487469
gnomAD v2:
2-189910777-CTTATA-C
gnomAD v3:
2-189046051-CTTATA-C
gnomAD v4:
2-189046051-CTTATA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189046054_189046058del , CM000664.2:g.189046054_189046058del | GRCh38 |
| NC_000002.11:g.189910780_189910784del , CM000664.1:g.189910780_189910784del | GRCh37 |
| NC_000002.10:g.189619025_189619029del | NCBI36 |
| NG_011799.1:g.138824_138828del | |
| NG_011799.2:g.138824_138828del | |
| NG_011799.3:g.184246_184250del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3202-149_3202-145del MANE Select | ENSP00000364000.3:n.3202-149_3202-145del | |
| ENST00000374866.7:c.3202-149_3202-145del | ENSP00000364000.3:n.3202-149_3202-145del | |
| ENST00000618828.1:c.2041-149_2041-145del | ENSP00000482184.1:n.2041-149_2041-145del | |
| NM_000393.3:c.3202-149_3202-145del | NP_000384.2:n.3202-149_3202-145del | |
| XM_011510573.1:c.3064-149_3064-145del | XP_011508875.1:n.3064-149_3064-145del | |
| NM_000393.4:c.3202-149_3202-145del | NP_000384.2:n.3202-149_3202-145del | |
| XM_011510573.3:c.3064-149_3064-145del | XP_011508875.1:n.3064-149_3064-145del | |
| NM_000393.5:c.3202-149_3202-145del MANE Select | NP_000384.2:n.3202-149_3202-145del |