Linked Data
ClinVar Variation Id:
90631
ClinVar RCV Id:
RCV000076127
dbSNP Id:
rs267607696
PubMed:
PMID:12200596
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47445611_47445612insGG , CM000664.2:g.47445611_47445612insGG | GRCh38 |
| NC_000002.11:g.47672750_47672751insGG , CM000664.1:g.47672750_47672751insGG | GRCh37 |
| NC_000002.10:g.47526254_47526255insGG | NCBI36 |
| NG_007110.2:g.47488_47489insGG , LRG_218:g.47488_47489insGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644900.2:c.1340_1341insGG | ENSP00000495641.2:p.Phe447LeufsTer8 | |
| ENST00000233146.7:c.1340_1341insGG MANE Select | ENSP00000233146.2:p.Phe447LeufsTer8 | |
| ENST00000543555.6:c.1142_1143insGG | ENSP00000442697.1:p.Phe381LeufsTer8 | |
| ENST00000644092.1:c.1340_1341insGG | ENSP00000496351.1:p.Phe447LeufsTer8 | |
| ENST00000645339.1:c.1340_1341insGG | ENSP00000496441.1:p.Phe447LeufsTer8 | |
| ENST00000645506.1:c.1340_1341insGG | ENSP00000495455.1:p.Phe447LeufsTer8 | |
| ENST00000646415.1:c.1340_1341insGG | ENSP00000495543.1:p.Phe447LeufsTer8 | |
| ENST00000233146.6:c.1340_1341insGG | ENSP00000233146.2:p.Phe447LeufsTer8 | |
| ENST00000406134.5:c.1340_1341insGG | ENSP00000384199.1:p.Phe447LeufsTer8 | |
| ENST00000543555.5:c.1142_1143insGG | ENSP00000442697.1:p.Phe381LeufsTer8 | |
| ENST00000610696.4:c.1340_1341insGG | ENSP00000483159.1:p.Phe447LeufsTer8 | |
| ENST00000613514.4:c.1340_1341insGG | ENSP00000484137.1:p.Phe447LeufsTer8 | |
| ENST00000617333.3:c.*106_*107insGG | ENSP00000482468.1:n.*106_*107insGG | |
| ENST00000617938.4:c.*312_*313insGG | ENSP00000481158.1:n.*312_*313insGG | |
| ENST00000621359.2:c.1340_1341insGG | ENSP00000481416.1:p.Phe447LeufsTer8 | |
| NM_000251.2:c.1340_1341insGG , LRG_218t1:c.1340_1341insGG | NP_000242.1:p.Phe447LeufsTer8 | |
| NM_001258281.1:c.1142_1143insGG | NP_001245210.1:p.Phe381LeufsTer8 | |
| XM_005264332.2:c.1340_1341insGG | XP_005264389.2:p.Phe447LeufsTer8 | |
| XM_011532867.1:c.1340_1341insGG | XP_011531169.1:p.Phe447LeufsTer8 | |
| XR_939685.1:n.1412_1413insGG | ||
| XM_005264332.4:c.1340_1341insGG | XP_005264389.2:p.Phe447LeufsTer8 | |
| XM_011532867.2:c.1340_1341insGG | XP_011531169.1:p.Phe447LeufsTer8 | |
| XR_001738747.2:n.1402_1403insGG | ||
| XR_939685.2:n.1402_1403insGG | ||
| NM_000251.3:c.1340_1341insGG MANE Select | NP_000242.1:p.Phe447LeufsTer8 |