Linked Data
ClinVar Variation Id:
126189
dbSNP Id:
rs80359727
MyVariant Identifiers:
chr13:g.32950919_32950922dupTTAC (hg19)
chr13:g.32376782_32376785dupTTAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32376782_32376785dup , CM000675.2:g.32376782_32376785dup | GRCh38 |
| NC_000013.10:g.32950919_32950922dup , CM000675.1:g.32950919_32950922dup | GRCh37 |
| NC_000013.9:g.31848919_31848922dup | NCBI36 |
| NG_012772.3:g.66303_66306dup , LRG_293:g.66303_66306dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.8745_8748dup | ENSP00000434898.2:p.Glu2918ProfsTer2 | |
| ENST00000528762.2:c.*112_*115dup | ENSP00000433168.2:n.*112_*115dup | |
| ENST00000530893.7:c.8376_8379dup | ENSP00000499438.2:p.Glu2795ProfsTer2 | |
| ENST00000665585.2:c.*307_*310dup | ENSP00000499570.2:n.*307_*310dup | |
| ENST00000666593.2:c.8745_8748dup | ENSP00000499256.2:p.Glu2918ProfsTer2 | |
| ENST00000700202.2:c.8745_8748dup | ENSP00000514856.2:p.Glu2918ProfsTer2 | |
| ENST00000700202.1:c.1212_1215dup | ENSP00000514856.1:p.Glu407ProfsTer2 | |
| ENST00000700203.1:n.872_875dup | ||
| ENST00000380152.8:c.8745_8748dup MANE Select | ENSP00000369497.3:p.Glu2918ProfsTer2 | |
| ENST00000544455.6:c.8745_8748dup | ENSP00000439902.1:p.Glu2918ProfsTer2 | |
| ENST00000614259.2:c.8753_8756dup | ENSP00000506251.1:n.8753_8756dup | |
| ENST00000665585.1:c.1623_1626dup | ||
| ENST00000680887.1:c.8745_8748dup | ENSP00000505508.1:p.Glu2918ProfsTer2 | |
| ENST00000380152.7:c.8745_8748dup | ENSP00000369497.3:p.Glu2918ProfsTer2 | |
| ENST00000528762.1:c.307_310dup | ENSP00000433168.1:n.307_310dup | |
| ENST00000544455.5:c.8745_8748dup | ENSP00000439902.1:p.Glu2918ProfsTer2 | |
| NM_000059.3:c.8745_8748dup , LRG_293t1:c.8745_8748dup | NP_000050.2:p.Glu2918ProfsTer2 | |
| XM_011535203.1:c.8745_8748dup | XP_011533505.1:p.Glu2918ProfsTer2 | |
| XM_011535204.1:c.8649_8652dup | XP_011533506.1:p.Glu2886ProfsTer2 | |
| XM_011535205.1:c.8745_8748dup | XP_011533507.1:p.Glu2918ProfsTer2 | |
| NM_000059.4:c.8745_8748dup MANE Select | NP_000050.3:p.Glu2918ProfsTer2 |