Linked Data
ClinVar Variation Id:
1508633
ClinVar RCV Id:
RCV002040468
dbSNP Id:
rs2148583756
gnomAD v4:
1-6471051-C-CCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6471060_6471062dup , CM000663.2:g.6471060_6471062dup | GRCh38 |
| NC_000001.10:g.6531120_6531122dup , CM000663.1:g.6531120_6531122dup | GRCh37 |
| NC_000001.9:g.6453707_6453709dup | NCBI36 |
| NG_007978.1:g.53956_53958dup , LRG_262:g.53956_53958dup | |
| NG_029910.1:g.142_144dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.1328_1330dup | ENSP00000344570.5:p.Glu443_Gly444insGlu | |
| ENST00000377728.8:c.1328_1330dup MANE Select | ENSP00000366957.3:p.Glu443_Gly444insGlu | |
| ENST00000377740.5:c.1328_1330dup | ENSP00000366969.4:p.Glu443_Gly444insGlu | |
| ENST00000377748.6:c.1502_1504dup | ENSP00000366977.2:p.Glu501_Gly502insGlu | |
| ENST00000400913.6:c.1328_1330dup | ENSP00000383704.1:p.Glu443_Gly444insGlu | |
| ENST00000400915.8:c.1439_1441dup | ENSP00000383706.4:p.Glu480_Gly481insGlu | |
| ENST00000489097.6:n.1804_1806dup | ||
| ENST00000535355.6:c.1535_1537dup | ENSP00000441445.1:p.Glu512_Gly513insGlu | |
| ENST00000537245.6:c.1439_1441dup | ENSP00000439625.2:p.Glu480_Gly481insGlu | |
| ENST00000673471.2:c.1625_1627dup | ENSP00000500749.1:p.Glu542_Gly543insGlu | |
| ENST00000674685.1:n.361_363dup | ||
| ENST00000674790.1:c.*1540_*1542dup | ENSP00000502815.1:n.*1540_*1542dup | |
| ENST00000675123.1:c.1328_1330dup | ENSP00000502132.1:p.Glu443_Gly444insGlu | |
| ENST00000675548.1:c.*1156_*1158dup | ENSP00000502684.1:n.*1156_*1158dup | |
| ENST00000675694.1:c.1328_1330dup | ENSP00000501925.1:p.Glu443_Gly444insGlu | |
| ENST00000340850.9:c.1328_1330dup | ENSP00000344570.5:p.Glu443_Gly444insGlu | |
| ENST00000377725.5:c.1328_1330dup | ENSP00000366954.1:p.Glu443_Gly444insGlu | |
| ENST00000377728.7:c.1328_1330dup | ENSP00000366957.3:p.Glu443_Gly444insGlu | |
| ENST00000377732.5:c.1439_1441dup | ENSP00000366961.1:p.Glu480_Gly481insGlu | |
| ENST00000377740.4:c.1559_1561dup | ENSP00000366969.3:p.Glu520_Gly521insGlu | |
| ENST00000377748.5:c.1559_1561dup | ENSP00000366977.1:p.Glu520_Gly521insGlu | |
| ENST00000400913.5:c.1328_1330dup | ENSP00000383704.1:p.Glu443_Gly444insGlu | |
| ENST00000400915.7:c.1496_1498dup | ENSP00000383706.3:p.Glu499_Gly500insGlu | |
| ENST00000487949.4:n.530_532dup | ||
| ENST00000489097.5:n.1804_1806dup | ||
| ENST00000535355.5:c.1535_1537dup | ENSP00000441445.1:p.Glu512_Gly513insGlu | |
| ENST00000537245.5:c.1565_1567dup | ENSP00000439625.1:p.Glu522_Gly523insGlu | |
| NM_001042663.1:c.1496_1498dup | NP_001036128.1:p.Glu499_Gly500insGlu | |
| NM_001042664.1:c.1328_1330dup | NP_001036129.1:p.Glu443_Gly444insGlu | |
| NM_001042665.1:c.1328_1330dup | NP_001036130.1:p.Glu443_Gly444insGlu | |
| NM_001265592.1:c.1565_1567dup | NP_001252521.1:p.Glu522_Gly523insGlu | |
| NM_001265593.1:c.1535_1537dup | NP_001252522.1:p.Glu512_Gly513insGlu | |
| NM_001265594.1:c.1328_1330dup | NP_001252523.1:p.Glu443_Gly444insGlu | |
| NM_020631.4:c.1328_1330dup | NP_065682.2:p.Glu443_Gly444insGlu | |
| NM_198681.3:c.1559_1561dup | NP_941374.2:p.Glu520_Gly521insGlu | |
| NM_001042663.2:c.1496_1498dup | NP_001036128.1:p.Glu499_Gly500insGlu | |
| NM_001265594.2:c.1328_1330dup | NP_001252523.1:p.Glu443_Gly444insGlu | |
| NM_020631.5:c.1328_1330dup | NP_065682.2:p.Glu443_Gly444insGlu | |
| NM_001042663.3:c.1439_1441dup | NP_001036128.2:p.Glu480_Gly481insGlu | |
| NM_001265592.2:c.1439_1441dup | NP_001252521.2:p.Glu480_Gly481insGlu | |
| NM_020631.6:c.1328_1330dup MANE Select | NP_065682.2:p.Glu443_Gly444insGlu | |
| NM_198681.4:c.1328_1330dup | NP_941374.3:p.Glu443_Gly444insGlu |