Linked Data
dbSNP Id:
rs750139377
ExAC:
22:50965547 T / TG
gnomAD v2:
22-50965547-T-TG
gnomAD v4:
22-50527118-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50527121dup , CM000684.2:g.50527121dup | GRCh38 |
| NC_000022.10:g.50965550dup , CM000684.1:g.50965550dup | GRCh37 |
| NC_000022.9:g.49312416dup | NCBI36 |
| NG_011860.1:g.7967dup , LRG_727:g.7967dup | |
| NG_016235.1:g.4321dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.765+46dup MANE Select | ENSP00000252029.3:n.765+46dup | |
| ENST00000395680.6:c.765+46dup | ENSP00000379037.1:n.765+46dup | |
| ENST00000395681.6:c.765+46dup | ENSP00000379038.1:n.765+46dup | |
| ENST00000650719.1:c.647-381dup | ENSP00000498276.1:n.647-381dup | |
| ENST00000651401.1:c.249+46dup | ENSP00000499115.1:n.249+46dup | |
| ENST00000652352.1:c.476+46dup | ENSP00000498579.1:n.476+46dup | |
| ENST00000652401.1:c.266+46dup | ||
| ENST00000252029.7:c.765+46dup | ENSP00000252029.3:n.765+46dup | |
| ENST00000395678.7:c.765+46dup | ENSP00000379036.3:n.765+46dup | |
| ENST00000395680.5:c.765+46dup | ENSP00000379037.1:n.765+46dup | |
| ENST00000395681.5:c.765+46dup | ENSP00000379038.1:n.765+46dup | |
| ENST00000425169.1:c.666+46dup | ENSP00000395875.1:n.666+46dup | |
| ENST00000476284.1:n.772-381dup | ||
| ENST00000487577.5:n.1052+46dup | ||
| NM_001113755.2:c.765+46dup | NP_001107227.1:n.765+46dup | |
| NM_001113756.2:c.765+46dup | NP_001107228.1:n.765+46dup | |
| NM_001257988.1:c.765+46dup , LRG_727t1:c.765+46dup | NP_001244917.1:n.765+46dup | |
| NM_001257989.1:c.765+46dup , LRG_727t2:c.765+46dup | NP_001244918.1:n.765+46dup | |
| NM_001953.4:c.765+46dup | NP_001944.1:n.765+46dup | |
| NM_001113755.3:c.765+46dup | NP_001107227.1:n.765+46dup | |
| NM_001113756.3:c.765+46dup | NP_001107228.1:n.765+46dup | |
| NM_001953.5:c.765+46dup MANE Select | NP_001944.1:n.765+46dup |