Linked Data
ClinVar Variation Id:
473531
dbSNP Id:
rs1237046519
gnomAD v2:
12-133241888-C-CCCT
gnomAD v4:
12-132665302-C-CCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132665303_132665305dup , CM000674.2:g.132665303_132665305dup | GRCh38 |
| NC_000012.11:g.133241889_133241891dup , CM000674.1:g.133241889_133241891dup | GRCh37 |
| NC_000012.10:g.131751962_131751964dup | NCBI36 |
| NG_033840.1:g.27220_27222dup , LRG_789:g.27220_27222dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544870.6:c.86_88dup | ENSP00000479927.2:p.Lys29_Gly30insGlu | |
| ENST00000699982.1:c.2319_2321dup | ||
| ENST00000699983.1:c.2319_2321dup | ||
| ENST00000699984.1:c.2319_2321dup | ||
| ENST00000320574.10:c.2465_2467dup MANE Select | ENSP00000322570.5:p.Lys822_Gly823insGlu | |
| ENST00000672002.1:c.86_88dup | ENSP00000500233.1:p.Lys29_Gly30insGlu | |
| ENST00000672742.1:c.*1967_*1969dup | ENSP00000500279.1:n.*1967_*1969dup | |
| ENST00000320574.9:c.2465_2467dup | ENSP00000322570.5:p.Lys822_Gly823insGlu | |
| ENST00000535270.5:c.2384_2386dup | ENSP00000445753.1:p.Lys795_Gly796insGlu | |
| ENST00000537064.5:c.*1512_*1514dup | ENSP00000442578.1:n.*1512_*1514dup | |
| NM_006231.3:c.2465_2467dup , LRG_789t1:c.2465_2467dup | NP_006222.2:p.Lys822_Gly823insGlu | |
| XM_011534795.1:c.2465_2467dup | XP_011533097.1:p.Lys822_Gly823insGlu | |
| XM_011534796.1:c.2336_2338dup | XP_011533098.1:p.Lys779_Gly780insGlu | |
| XM_011534797.1:c.1544_1546dup | XP_011533099.1:p.Lys515_Gly516insGlu | |
| XM_011534798.1:c.1127_1129dup | XP_011533100.1:p.Lys376_Gly377insGlu | |
| XM_011534799.1:c.2465_2467dup | XP_011533101.1:p.Lys822_Gly823insGlu | |
| XM_011534800.1:c.2465_2467dup | XP_011533102.1:p.Lys822_Gly823insGlu | |
| XM_011534801.1:c.2465_2467dup | XP_011533103.1:p.Lys822_Gly823insGlu | |
| XR_941395.1:n.2674_2676dup | ||
| XM_011534795.3:c.2465_2467dup | XP_011533097.1:p.Lys822_Gly823insGlu | |
| XM_011534797.3:c.1544_1546dup | XP_011533099.1:p.Lys515_Gly516insGlu | |
| XM_011534799.2:c.2465_2467dup | XP_011533101.1:p.Lys822_Gly823insGlu | |
| XR_002957338.1:n.2669_2671dup | ||
| XR_002957339.1:n.2669_2671dup | ||
| XR_941395.2:n.2669_2671dup | ||
| NM_006231.4:c.2465_2467dup MANE Select | NP_006222.2:p.Lys822_Gly823insGlu |