Linked Data
ClinVar Variation Id:
52587
ClinVar RCV Id:
RCV000113932
dbSNP Id:
rs80359710
PubMed:
PMID:8673091
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32370506dup , CM000675.2:g.32370506dup | GRCh38 |
| NC_000013.10:g.32944643dup , CM000675.1:g.32944643dup | GRCh37 |
| NC_000013.9:g.31842643dup | NCBI36 |
| NG_012772.3:g.60027dup , LRG_293:g.60027dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8436dup | ENSP00000434898.2:p.Gly2813ArgfsTer7 | |
| ENST00000528762.2:c.8436dup | ENSP00000433168.2:p.Gly2813ArgfsTer7 | |
| ENST00000530893.7:c.8067dup | ENSP00000499438.2:p.Gly2690ArgfsTer7 | |
| ENST00000665585.2:c.8436dup | ENSP00000499570.2:p.Gly2813ArgfsTer7 | |
| ENST00000666593.2:c.8436dup | ENSP00000499256.2:p.Gly2813ArgfsTer7 | |
| ENST00000700202.2:c.8436dup | ENSP00000514856.2:p.Gly2813ArgfsTer7 | |
| ENST00000700202.1:c.903dup | ENSP00000514856.1:p.Gly302ArgfsTer7 | |
| ENST00000380152.8:c.8436dup MANE Select | ENSP00000369497.3:p.Gly2813ArgfsTer7 | |
| ENST00000544455.6:c.8436dup | ENSP00000439902.1:p.Gly2813ArgfsTer7 | |
| ENST00000614259.2:c.8444dup | ENSP00000506251.1:n.8444dup | |
| ENST00000665585.1:c.1001dup | ||
| ENST00000680887.1:c.8436dup | ENSP00000505508.1:p.Gly2813ArgfsTer7 | |
| ENST00000380152.7:c.8436dup | ENSP00000369497.3:p.Gly2813ArgfsTer7 | |
| ENST00000544455.5:c.8436dup | ENSP00000439902.1:p.Gly2813ArgfsTer7 | |
| NM_000059.3:c.8436dup , LRG_293t1:c.8436dup | NP_000050.2:p.Gly2813ArgfsTer7 | |
| XM_011535203.1:c.8436dup | XP_011533505.1:p.Gly2813ArgfsTer7 | |
| XM_011535204.1:c.8340dup | XP_011533506.1:p.Gly2781ArgfsTer7 | |
| XM_011535205.1:c.8436dup | XP_011533507.1:p.Gly2813ArgfsTer7 | |
| NM_000059.4:c.8436dup MANE Select | NP_000050.3:p.Gly2813ArgfsTer7 |