Linked Data
ClinVar Variation Id:
372990
ClinVar RCV Id:
RCV000413241
dbSNP Id:
rs760024638
ExAC:
22:50658894 A / AG
gnomAD v2:
22-50658894-A-AG
gnomAD v3:
22-50220465-A-AG
gnomAD v4:
22-50220465-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220471dup , CM000684.2:g.50220471dup | GRCh38 |
| NC_000022.10:g.50658900dup , CM000684.1:g.50658900dup | GRCh37 |
| NC_000022.9:g.49001027dup | NCBI36 |
| NG_032160.1:g.29506dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3893dup MANE Select | ENSP00000248846.5:p.Gly1299TrpfsTer? | |
| ENST00000248846.9:c.3893dup | ENSP00000248846.5:p.Gly1299TrpfsTer? | |
| ENST00000439308.6:c.3893dup | ENSP00000397387.2:p.Gly1299TrpfsTer? | |
| ENST00000491449.5:n.2200dup | ||
| ENST00000498611.5:n.3618-451dup | ||
| NM_020461.3:c.3893dup | NP_065194.2:p.Gly1299TrpfsTer? | |
| XR_938347.1:n.4458dup | ||
| XR_938348.1:n.3050-451dup | ||
| XR_001755343.2:n.4462dup | ||
| XR_001755344.2:n.4462dup | ||
| XR_002958720.1:n.3054-451dup | ||
| XR_938347.2:n.4462dup | ||
| NM_020461.4:c.3893dup MANE Select | NP_065194.3:p.Gly1299TrpfsTer? |