Linked Data
ClinVar Variation Id:
1026306
ClinVar RCV Id:
RCV001326736
dbSNP Id:
rs782003860
gnomAD v2:
X-153296669-A-ACGTGGCCGCCTTGGGTCT
gnomAD v4:
X-154031218-A-ACGTGGCCGCCTTGGGTCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031224_154031241dup , CM000685.2:g.154031224_154031241dup | GRCh38 |
| NC_000023.10:g.153296675_153296692dup , CM000685.1:g.153296675_153296692dup | GRCh37 |
| NC_000023.9:g.152949869_152949886dup | NCBI36 |
| NG_007107.2:g.110892_110909dup | |
| NG_007107.3:g.110868_110885dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.592_609dup MANE Plus Clinical | ENSP00000301948.6:p.Thr203_Ser204insArgPr... | |
| ENST00000453960.7:c.628_645dup MANE Select | ENSP00000395535.2:p.Thr215_Ser216insArgPr... | |
| ENST00000637917.1:c.65+160_65+177dup | ||
| ENST00000303391.10:c.592_609dup | ENSP00000301948.6:p.Thr203_Ser204insArgPr... | |
| ENST00000407218.5:c.519_536dup | ENSP00000384865.2:p.Arg179_Gln180insAspPr... | |
| ENST00000453960.6:c.628_645dup | ENSP00000395535.2:p.Thr215_Ser216insArgPr... | |
| ENST00000619732.4:c.592_609dup | ENSP00000480973.1:p.Thr203_Ser204insArgPr... | |
| ENST00000622433.4:c.580_597dup | ENSP00000484470.1:p.Thr199_Ser200insArgPr... | |
| ENST00000628176.2:c.483_500dup | ENSP00000486978.1:p.Arg167_Gln168insAspPr... | |
| NM_001110792.1:c.628_645dup | NP_001104262.1:p.Thr215_Ser216insArgProLy... | |
| NM_001316337.1:c.313_330dup | NP_001303266.1:p.Thr110_Ser111insArgProLy... | |
| NM_004992.3:c.592_609dup | NP_004983.1:p.Thr203_Ser204insArgProLysAl... | |
| XM_005274681.3:c.592_609dup | XP_005274738.1:p.Thr203_Ser204insArgProLy... | |
| XM_005274682.3:c.313_330dup | XP_005274739.1:p.Thr110_Ser111insArgProLy... | |
| XM_005274683.3:c.313_330dup | XP_005274740.1:p.Thr110_Ser111insArgProLy... | |
| XM_006724819.2:c.-78_-61dup | XP_006724882.1:n.-78_-61dup | |
| XM_011531166.1:c.313_330dup | XP_011529468.1:p.Thr110_Ser111insArgProLy... | |
| XM_006724819.3:c.-78_-61dup | XP_006724882.1:n.-78_-61dup | |
| XM_011531166.2:c.313_330dup | XP_011529468.1:p.Thr110_Ser111insArgProLy... | |
| XM_024452383.1:c.313_330dup | XP_024308151.1:p.Thr110_Ser111insArgProLy... | |
| XM_024452384.1:c.313_330dup | XP_024308152.1:p.Thr110_Ser111insArgProLy... | |
| NM_001110792.2:c.628_645dup MANE Select | NP_001104262.1:p.Thr215_Ser216insArgProLy... | |
| NM_001316337.2:c.313_330dup | NP_001303266.1:p.Thr110_Ser111insArgProLy... | |
| NM_001369391.2:c.313_330dup | NP_001356320.1:p.Thr110_Ser111insArgProLy... | |
| NM_001369392.2:c.313_330dup | NP_001356321.1:p.Thr110_Ser111insArgProLy... | |
| NM_001369393.2:c.313_330dup | NP_001356322.1:p.Thr110_Ser111insArgProLy... | |
| NM_001369394.1:c.313_330dup | NP_001356323.1:p.Thr110_Ser111insArgProLy... | |
| NM_001369394.2:c.313_330dup | NP_001356323.1:p.Thr110_Ser111insArgProLy... | |
| NM_001386137.1:c.-78_-61dup | NP_001373066.1:n.-78_-61dup | |
| NM_001386138.1:c.-78_-61dup | NP_001373067.1:n.-78_-61dup | |
| NM_001386139.1:c.-78_-61dup | NP_001373068.1:n.-78_-61dup | |
| NM_004992.4:c.592_609dup MANE Plus Clinical | NP_004983.1:p.Thr203_Ser204insArgProLysAl... |