Linked Data
dbSNP Id:
rs1472582138
gnomAD v2:
22-50659019-ACACAGGCTCCCC-A
gnomAD v4:
22-50220590-ACACAGGCTCCCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220593_50220604del , CM000684.2:g.50220593_50220604del | GRCh38 |
| NC_000022.10:g.50659022_50659033del , CM000684.1:g.50659022_50659033del | GRCh37 |
| NC_000022.9:g.49001149_49001160del | NCBI36 |
| NG_032160.1:g.29370_29381del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3757_3768del MANE Select | ENSP00000248846.5:p.Gly1253_Val1256del | |
| ENST00000248846.9:c.3757_3768del | ENSP00000248846.5:p.Gly1253_Val1256del | |
| ENST00000439308.6:c.3757_3768del | ENSP00000397387.2:p.Gly1253_Val1256del | |
| ENST00000491449.5:n.2064_2075del | ||
| ENST00000498611.5:n.3618-587_3618-576del | ||
| NM_020461.3:c.3757_3768del | NP_065194.2:p.Gly1253_Val1256del | |
| XR_938347.1:n.4322_4333del | ||
| XR_938348.1:n.3050-587_3050-576del | ||
| XR_001755343.2:n.4326_4337del | ||
| XR_001755344.2:n.4326_4337del | ||
| XR_002958720.1:n.3054-587_3054-576del | ||
| XR_938347.2:n.4326_4337del | ||
| NM_020461.4:c.3757_3768del MANE Select | NP_065194.3:p.Gly1253_Val1256del |