Linked Data
ClinVar Variation Id:
52820
dbSNP Id:
rs397508048
MyVariant Identifiers:
chr13:g.32968925_32968926delinsG (hg19)
chr13:g.32394788_32394789delinsG (hg38)
PubMed:
PMID:21614564
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394788_32394789delinsG , CM000675.2:g.32394788_32394789delinsG | GRCh38 |
| NC_000013.10:g.32968925_32968926delinsG , CM000675.1:g.32968925_32968926delinsG | GRCh37 |
| NC_000013.9:g.31866925_31866926delinsG | NCBI36 |
| NG_012772.3:g.84309_84310delinsG , LRG_293:g.84309_84310delinsG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.9356_9357delinsG | ENSP00000434898.2:p.Leu3119Ter | |
| ENST00000528762.2:c.*723_*724delinsG | ENSP00000433168.2:n.*723_*724delinsG | |
| ENST00000530893.7:c.8987_8988delinsG | ENSP00000499438.2:p.Leu2996Ter | |
| ENST00000665585.2:c.*918_*919delinsG | ENSP00000499570.2:n.*918_*919delinsG | |
| ENST00000666593.2:c.*201_*202delinsG | ENSP00000499256.2:n.*201_*202delinsG | |
| ENST00000700202.2:c.9305_9306delinsG | ENSP00000514856.2:p.Leu3102Ter | |
| ENST00000700202.1:c.1772_1773delinsG | ENSP00000514856.1:p.Leu591Ter | |
| ENST00000700203.1:n.1483_1484delinsG | ||
| ENST00000380152.8:c.9356_9357delinsG MANE Select | ENSP00000369497.3:p.Leu3119Ter | |
| ENST00000544455.6:c.9356_9357delinsG | ENSP00000439902.1:p.Leu3119Ter | |
| ENST00000614259.2:c.9364_9365delinsG | ENSP00000506251.1:n.9364_9365delinsG | |
| ENST00000665585.1:c.2234_2235delinsG | ||
| ENST00000666593.1:c.378_379delinsG | ENSP00000499256.1:n.378_379delinsG | |
| ENST00000680887.1:c.9356_9357delinsG | ENSP00000505508.1:p.Leu3119Ter | |
| ENST00000380152.7:c.9356_9357delinsG | ENSP00000369497.3:p.Leu3119Ter | |
| ENST00000470094.1:c.313_314delinsG | ||
| ENST00000544455.5:c.9356_9357delinsG | ENSP00000439902.1:p.Leu3119Ter | |
| NM_000059.3:c.9356_9357delinsG , LRG_293t1:c.9356_9357delinsG | NP_000050.2:p.Leu3119Ter | |
| XM_011535203.1:c.9356_9357delinsG | XP_011533505.1:p.Leu3119Ter | |
| XM_011535204.1:c.9260_9261delinsG | XP_011533506.1:p.Leu3087Ter | |
| NM_000059.4:c.9356_9357delinsG MANE Select | NP_000050.3:p.Leu3119Ter |