Linked Data
ClinVar Variation Id:
280096
dbSNP Id:
rs886041380
gnomAD v2:
19-38987506-A-AG
gnomAD v3:
19-38496866-A-AG
gnomAD v4:
19-38496866-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38496869dup , CM000681.2:g.38496869dup | GRCh38 |
| NC_000019.9:g.38987509dup , CM000681.1:g.38987509dup | GRCh37 |
| NC_000019.8:g.43679349dup | NCBI36 |
| NG_008866.1:g.68170dup , LRG_766:g.68170dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.6806dup | ENSP00000471601.2:p.Ser2270LeufsTer13 | |
| ENST00000359596.8:c.6806dup MANE Select | ENSP00000352608.2:p.Ser2270LeufsTer13 | |
| ENST00000355481.8:c.6806dup | ENSP00000347667.3:p.Ser2270LeufsTer13 | |
| ENST00000359596.7:c.6806dup | ENSP00000352608.2:p.Ser2270LeufsTer13 | |
| ENST00000360985.7:c.6803dup | ENSP00000354254.4:p.Ser2269LeufsTer13 | |
| ENST00000594335.5:c.258dup | ||
| NM_000540.2:c.6806dup , LRG_766t1:c.6806dup | NP_000531.2:p.Ser2270LeufsTer13 | |
| NM_001042723.1:c.6806dup | NP_001036188.1:p.Ser2270LeufsTer13 | |
| XM_006723317.1:c.6806dup | XP_006723380.1:p.Ser2270LeufsTer13 | |
| XM_006723319.1:c.6806dup | XP_006723382.1:p.Ser2270LeufsTer13 | |
| XM_011527204.1:c.6803dup | XP_011525506.1:p.Ser2269LeufsTer13 | |
| XM_011527205.1:c.6806dup | XP_011525507.1:p.Ser2270LeufsTer13 | |
| XM_006723317.2:c.6806dup | XP_006723380.1:p.Ser2270LeufsTer13 | |
| XM_006723319.2:c.6806dup | XP_006723382.1:p.Ser2270LeufsTer13 | |
| XM_011527205.2:c.6806dup | XP_011525507.1:p.Ser2270LeufsTer13 | |
| XR_001753735.1:n.6889dup | ||
| NM_000540.3:c.6806dup MANE Select | NP_000531.2:p.Ser2270LeufsTer13 | |
| NM_001042723.2:c.6806dup | NP_001036188.1:p.Ser2270LeufsTer13 |