Linked Data
ClinVar Variation Id:
2956903
ClinVar RCV Id:
RCV003816614
dbSNP Id:
rs758747347
ExAC:
1:8419877 C / CCTT
gnomAD v2:
1-8419877-C-CCTT
gnomAD v3:
1-8359817-C-CCTT
gnomAD v4:
1-8359817-C-CCTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8359820_8359822dup , CM000663.2:g.8359820_8359822dup | GRCh38 |
| NC_000001.10:g.8419880_8419882dup , CM000663.1:g.8419880_8419882dup | GRCh37 |
| NC_000001.9:g.8342467_8342469dup | NCBI36 |
| NG_047035.1:g.462872_462874dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465125.2:c.1900_1902dup | ENSP00000515651.1:p.Lys634_Glu635insLys | |
| ENST00000400908.7:c.3562_3564dup MANE Select | ENSP00000383700.2:p.Lys1188_Glu1189insLys | |
| ENST00000337907.7:c.3562_3564dup | ENSP00000338629.3:p.Lys1188_Glu1189insLys | |
| ENST00000377464.5:c.2758_2760dup | ENSP00000366684.1:p.Lys920_Glu921insLys | |
| ENST00000400907.6:c.1541-4221_1541-4219dup | ENSP00000383699.2:n.1541-4221_1541-4219dup | |
| ENST00000400908.6:c.3562_3564dup | ENSP00000383700.2:p.Lys1188_Glu1189insLys | |
| ENST00000476556.5:c.1900_1902dup | ENSP00000422246.1:p.Lys634_Glu635insLys | |
| ENST00000505225.1:c.307+1640_307+1642dup | ENSP00000423451.1:n.307+1640_307+1642dup | |
| NM_001042681.1:c.3562_3564dup | NP_001036146.1:p.Lys1188_Glu1189insLys | |
| NM_001042682.1:c.1900_1902dup | NP_001036147.1:p.Lys634_Glu635insLys | |
| NM_012102.3:c.3562_3564dup | NP_036234.3:p.Lys1188_Glu1189insLys | |
| XM_005263464.1:c.3562_3564dup | XP_005263521.1:p.Lys1188_Glu1189insLys | |
| XM_005263466.1:c.2758_2760dup | XP_005263523.1:p.Lys920_Glu921insLys | |
| XM_006710653.1:c.3562_3564dup | XP_006710716.1:p.Lys1188_Glu1189insLys | |
| XM_011541510.1:c.3436_3438dup | XP_011539812.1:p.Lys1146_Glu1147insLys | |
| XM_011541511.1:c.3395+292_3395+294dup | XP_011539813.1:n.3395+292_3395+294dup | |
| XM_005263464.2:c.3562_3564dup | XP_005263521.1:p.Lys1188_Glu1189insLys | |
| XM_011541510.2:c.3436_3438dup | XP_011539812.1:p.Lys1146_Glu1147insLys | |
| XM_011541511.2:c.3395+292_3395+294dup | XP_011539813.1:n.3395+292_3395+294dup | |
| XM_017001358.1:c.3562_3564dup | XP_016856847.1:p.Lys1188_Glu1189insLys | |
| XM_017001359.1:c.3562_3564dup | XP_016856848.1:p.Lys1188_Glu1189insLys | |
| NM_001042681.2:c.3562_3564dup MANE Select | NP_001036146.1:p.Lys1188_Glu1189insLys | |
| NM_001042682.2:c.1900_1902dup | NP_001036147.1:p.Lys634_Glu635insLys | |
| NM_012102.4:c.3562_3564dup | NP_036234.3:p.Lys1188_Glu1189insLys |