Linked Data
ClinVar Variation Id:
52815
ClinVar RCV Id:
RCV000577098
dbSNP Id:
rs397508046
MyVariant Identifiers:
chr13:g.32968893_32968894insATTA (hg19)
chr13:g.32394756_32394757insATTA (hg38)
PubMed:
PMID:22762150
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394756_32394757insATTA , CM000675.2:g.32394756_32394757insATTA | GRCh38 |
| NC_000013.10:g.32968893_32968894insATTA , CM000675.1:g.32968893_32968894insATTA | GRCh37 |
| NC_000013.9:g.31866893_31866894insATTA | NCBI36 |
| NG_012772.3:g.84277_84278insATTA , LRG_293:g.84277_84278insATTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.9324_9325insATTA | ENSP00000434898.2:p.Leu3109IlefsTer3 | |
| ENST00000528762.2:c.*691_*692insATTA | ENSP00000433168.2:n.*691_*692insATTA | |
| ENST00000530893.7:c.8955_8956insATTA | ENSP00000499438.2:p.Leu2986IlefsTer3 | |
| ENST00000665585.2:c.*886_*887insATTA | ENSP00000499570.2:n.*886_*887insATTA | |
| ENST00000666593.2:c.*169_*170insATTA | ENSP00000499256.2:n.*169_*170insATTA | |
| ENST00000700202.2:c.9273_9274insATTA | ENSP00000514856.2:p.Leu3092IlefsTer3 | |
| ENST00000700202.1:c.1740_1741insATTA | ENSP00000514856.1:p.Leu581IlefsTer3 | |
| ENST00000700203.1:n.1451_1452insATTA | ||
| ENST00000380152.8:c.9324_9325insATTA MANE Select | ENSP00000369497.3:p.Leu3109IlefsTer3 | |
| ENST00000544455.6:c.9324_9325insATTA | ENSP00000439902.1:p.Leu3109IlefsTer3 | |
| ENST00000614259.2:c.9332_9333insATTA | ENSP00000506251.1:n.9332_9333insATTA | |
| ENST00000665585.1:c.2202_2203insATTA | ||
| ENST00000666593.1:c.346_347insATTA | ENSP00000499256.1:n.346_347insATTA | |
| ENST00000680887.1:c.9324_9325insATTA | ENSP00000505508.1:p.Leu3109IlefsTer3 | |
| ENST00000380152.7:c.9324_9325insATTA | ENSP00000369497.3:p.Leu3109IlefsTer3 | |
| ENST00000470094.1:c.281_282insATTA | ||
| ENST00000544455.5:c.9324_9325insATTA | ENSP00000439902.1:p.Leu3109IlefsTer3 | |
| NM_000059.3:c.9324_9325insATTA , LRG_293t1:c.9324_9325insATTA | NP_000050.2:p.Leu3109IlefsTer3 | |
| XM_011535203.1:c.9324_9325insATTA | XP_011533505.1:p.Leu3109IlefsTer3 | |
| XM_011535204.1:c.9228_9229insATTA | XP_011533506.1:p.Leu3077IlefsTer3 | |
| NM_000059.4:c.9324_9325insATTA MANE Select | NP_000050.3:p.Leu3109IlefsTer3 |