Linked Data
ClinVar Variation Id:
267171
dbSNP Id:
rs886040850
gnomAD v4:
13-32398259-C-CT
PubMed:
PMID:24010542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398261dup , CM000675.2:g.32398261dup | GRCh38 |
| NC_000013.10:g.32972398dup , CM000675.1:g.32972398dup | GRCh37 |
| NC_000013.9:g.31870398dup | NCBI36 |
| NG_012772.3:g.87782dup , LRG_293:g.87782dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.*271dup | ENSP00000434898.2:n.*271dup | |
| ENST00000528762.2:c.*1115dup | ENSP00000433168.2:n.*1115dup | |
| ENST00000530893.7:c.9379dup | ENSP00000499438.2:p.Ser3127PhefsTer5 | |
| ENST00000665585.2:c.*1310dup | ENSP00000499570.2:n.*1310dup | |
| ENST00000700202.2:c.9697dup | ENSP00000514856.2:p.Ser3233PhefsTer5 | |
| ENST00000700202.1:c.2164dup | ENSP00000514856.1:p.Ser722PhefsTer5 | |
| ENST00000700203.1:n.1875dup | ||
| ENST00000380152.8:c.9748dup MANE Select | ENSP00000369497.3:p.Ser3250PhefsTer5 | |
| ENST00000544455.6:c.9748dup | ENSP00000439902.1:p.Ser3250PhefsTer5 | |
| ENST00000614259.2:c.9756dup | ENSP00000506251.1:n.9756dup | |
| ENST00000680887.1:c.9748dup | ENSP00000505508.1:p.Ser3250PhefsTer5 | |
| ENST00000380152.7:c.9748dup | ENSP00000369497.3:p.Ser3250PhefsTer5 | |
| ENST00000470094.1:c.831dup | ||
| ENST00000533776.1:n.336dup | ||
| ENST00000544455.5:c.9748dup | ENSP00000439902.1:p.Ser3250PhefsTer5 | |
| NM_000059.3:c.9748dup , LRG_293t1:c.9748dup | NP_000050.2:p.Ser3250PhefsTer5 | |
| XM_011535203.1:c.9748dup | XP_011533505.1:p.Ser3250PhefsTer5 | |
| XM_011535204.1:c.9652dup | XP_011533506.1:p.Ser3218PhefsTer5 | |
| NM_000059.4:c.9748dup MANE Select | NP_000050.3:p.Ser3250PhefsTer5 |