Linked Data
dbSNP Id:
rs568177307
ExAC:
22:50662895 C / CA
gnomAD v2:
22-50662895-C-CA
gnomAD v3:
22-50224466-C-CA
gnomAD v4:
22-50224466-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50224468dup , CM000684.2:g.50224468dup | GRCh38 |
| NC_000022.10:g.50662897dup , CM000684.1:g.50662897dup | GRCh37 |
| NC_000022.9:g.49005024dup | NCBI36 |
| NG_032160.1:g.25505dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.2065+44dup MANE Select | ENSP00000248846.5:n.2065+44dup | |
| ENST00000248846.9:c.2065+44dup | ENSP00000248846.5:n.2065+44dup | |
| ENST00000439308.6:c.2065+44dup | ENSP00000397387.2:n.2065+44dup | |
| ENST00000473946.1:n.374+44dup | ||
| ENST00000489511.5:n.82+44dup | ||
| ENST00000491449.5:n.372+44dup | ||
| ENST00000498611.5:n.2598+44dup | ||
| NM_020461.3:c.2065+44dup | NP_065194.2:n.2065+44dup | |
| XR_938347.1:n.2630+44dup | ||
| XR_938348.1:n.2630+44dup | ||
| XR_001755343.2:n.2634+44dup | ||
| XR_001755344.2:n.2634+44dup | ||
| XR_002958720.1:n.2634+44dup | ||
| XR_938347.2:n.2634+44dup | ||
| NM_020461.4:c.2065+44dup MANE Select | NP_065194.3:n.2065+44dup |