Linked Data
dbSNP Id:
rs754934293
ExAC:
22:50662861 C / CA
gnomAD v2:
22-50662861-C-CA
gnomAD v4:
22-50224432-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50224433dup , CM000684.2:g.50224433dup | GRCh38 |
| NC_000022.10:g.50662862dup , CM000684.1:g.50662862dup | GRCh37 |
| NC_000022.9:g.49004989dup | NCBI36 |
| NG_032160.1:g.25539dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.2066-13dup MANE Select | ENSP00000248846.5:n.2066-13dup | |
| ENST00000248846.9:c.2066-13dup | ENSP00000248846.5:n.2066-13dup | |
| ENST00000439308.6:c.2066-13dup | ENSP00000397387.2:n.2066-13dup | |
| ENST00000473946.1:n.375-13dup | ||
| ENST00000489511.5:n.83-13dup | ||
| ENST00000491449.5:n.373-13dup | ||
| ENST00000498611.5:n.2599-13dup | ||
| NM_020461.3:c.2066-13dup | NP_065194.2:n.2066-13dup | |
| XR_938347.1:n.2631-13dup | ||
| XR_938348.1:n.2631-13dup | ||
| XR_001755343.2:n.2635-13dup | ||
| XR_001755344.2:n.2635-13dup | ||
| XR_002958720.1:n.2635-13dup | ||
| XR_938347.2:n.2635-13dup | ||
| NM_020461.4:c.2066-13dup MANE Select | NP_065194.3:n.2066-13dup |