Linked Data
ClinVar Variation Id:
590930
ClinVar RCV Id:
RCV000754557
dbSNP Id:
rs1567939718
gnomAD v4:
17-74919981-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919982dup , CM000679.2:g.74919982dup | GRCh38 |
| NC_000017.10:g.72916077dup , CM000679.1:g.72916077dup | GRCh37 |
| NC_000017.9:g.70427672dup | NCBI36 |
| NG_007882.1:g.8275dup | |
| NG_033062.1:g.708dup | |
| NG_007882.2:g.8282dup | |
| NG_033062.2:g.708dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.854dup MANE Select | ENSP00000480279.1:p.Ala286CysfsTer? | |
| ENST00000579243.1:c.*453dup | ENSP00000462568.1:n.*453dup | |
| ENST00000614341.4:c.854dup | ENSP00000480279.1:p.Ala286CysfsTer? | |
| NM_001282489.2:c.545dup | NP_001269418.1:p.Ala183CysfsTer? | |
| NM_173477.4:c.854dup | NP_775748.2:p.Ala286CysfsTer? | |
| XM_011524296.1:c.545dup | XP_011522598.1:p.Ala183CysfsTer? | |
| XM_011524296.2:c.545dup | XP_011522598.1:p.Ala183CysfsTer? | |
| NM_173477.5:c.854dup MANE Select | NP_775748.2:p.Ala286CysfsTer? | |
| NM_001282489.3:c.545dup | NP_001269418.1:p.Ala183CysfsTer? |