Linked Data
ClinVar Variation Id:
48857
dbSNP Id:
rs118203603
gnomAD v2:
9-135781005-G-GT
gnomAD v4:
9-132905618-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132905619dup , CM000671.2:g.132905619dup | GRCh38 |
| NC_000009.11:g.135781006dup , CM000671.1:g.135781006dup | GRCh37 |
| NC_000009.10:g.134770827dup | NCBI36 |
| NG_012386.1:g.44015dup , LRG_486:g.44015dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475903.7:c.1956dup | ENSP00000496126.2:p.Gln653ThrfsTer? | |
| ENST00000490179.4:c.1959dup | ENSP00000495533.2:p.Gln654ThrfsTer? | |
| ENST00000642261.2:c.1959dup | ENSP00000494743.2:p.Gln654ThrfsTer? | |
| ENST00000643275.2:c.1959dup | ENSP00000495598.2:p.Gln654ThrfsTer? | |
| ENST00000643362.2:c.1572dup | ENSP00000496398.2:p.Gln525ThrfsTer? | |
| ENST00000643625.2:c.1959dup | ENSP00000495546.2:p.Gln654ThrfsTer? | |
| ENST00000643691.2:c.1596dup | ENSP00000494916.2:p.Gln533ThrfsTer? | |
| ENST00000644184.2:c.1959dup | ENSP00000495428.2:p.Gln654ThrfsTer? | |
| ENST00000645129.2:c.1803dup | ENSP00000493639.2:p.Gln602ThrfsTer? | |
| ENST00000646440.2:c.1959dup | ENSP00000495830.2:p.Gln654ThrfsTer? | |
| ENST00000298552.9:c.1959dup MANE Select | ENSP00000298552.3:p.Gln654ThrfsTer? | |
| ENST00000642261.1:c.23dup | ||
| ENST00000642617.1:c.1956dup | ENSP00000493773.1:p.Gln653ThrfsTer? | |
| ENST00000642627.1:c.1956dup | ENSP00000496772.1:p.Gln653ThrfsTer29 | |
| ENST00000642811.1:c.*1729dup | ENSP00000495554.1:n.*1729dup | |
| ENST00000643072.1:c.1806dup | ENSP00000496691.1:p.Gln603ThrfsTer? | |
| ENST00000643275.1:c.477dup | ENSP00000495598.1:p.Gln160ThrfsTer? | |
| ENST00000643583.1:c.1959dup | ENSP00000494685.1:p.Gln654ThrfsTer29 | |
| ENST00000643625.1:c.3dup | ENSP00000495546.1:p.Gln2ThrfsTer? | |
| ENST00000643875.1:c.1959dup | ENSP00000495158.1:p.Gln654ThrfsTer? | |
| ENST00000644097.1:c.1956dup | ENSP00000494682.1:p.Gln653ThrfsTer? | |
| ENST00000644184.1:c.696dup | ENSP00000495428.1:p.Gln233ThrfsTer? | |
| ENST00000644255.1:c.*1726dup | ENSP00000493608.1:n.*1726dup | |
| ENST00000644319.1:n.2334dup | ||
| ENST00000644882.1:n.914dup | ||
| ENST00000645901.1:n.2810dup | ||
| ENST00000646391.1:c.*1729dup | ENSP00000494104.1:n.*1729dup | |
| ENST00000646625.1:c.1959dup | ENSP00000496263.1:p.Gln654ThrfsTer? | |
| ENST00000647262.1:n.924dup | ||
| ENST00000647279.1:c.*1198dup | ENSP00000494502.1:n.*1198dup | |
| ENST00000647506.1:n.2835dup | ||
| ENST00000647534.1:n.1023dup | ||
| ENST00000298552.7:c.1959dup | ENSP00000298552.3:p.Gln654ThrfsTer? | |
| ENST00000440111.6:c.1959dup | ENSP00000394524.2:p.Gln654ThrfsTer? | |
| ENST00000545250.5:c.1806dup | ENSP00000444017.1:p.Gln603ThrfsTer? | |
| NM_000368.4:c.1959dup , LRG_486t1:c.1959dup | NP_000359.1:p.Gln654ThrfsTer? | |
| NM_001162426.1:c.1956dup | NP_001155898.1:p.Gln653ThrfsTer? | |
| NM_001162427.1:c.1806dup | NP_001155899.1:p.Gln603ThrfsTer? | |
| XM_005272211.1:c.1959dup | XP_005272268.1:p.Gln654ThrfsTer? | |
| XM_006717271.1:c.1959dup | XP_006717334.1:p.Gln654ThrfsTer? | |
| XM_006717272.2:c.1959dup | XP_006717335.1:p.Gln654ThrfsTer20 | |
| XM_011518979.1:c.1959dup | XP_011517281.1:p.Gln654ThrfsTer? | |
| NM_001362177.1:c.1596dup | NP_001349106.1:p.Gln533ThrfsTer? | |
| XM_011518979.2:c.1959dup | XP_011517281.1:p.Gln654ThrfsTer? | |
| XM_017015096.1:c.1959dup | XP_016870585.1:p.Gln654ThrfsTer? | |
| XM_017015097.1:c.1959dup | XP_016870586.1:p.Gln654ThrfsTer? | |
| XM_017015098.1:c.1956dup | XP_016870587.1:p.Gln653ThrfsTer? | |
| XM_017015100.1:c.1596dup | XP_016870589.1:p.Gln533ThrfsTer? | |
| XM_017015101.1:c.1593dup | XP_016870590.1:p.Gln532ThrfsTer? | |
| NM_000368.5:c.1959dup MANE Select | NP_000359.1:p.Gln654ThrfsTer? | |
| NM_001162426.2:c.1956dup | NP_001155898.1:p.Gln653ThrfsTer? | |
| NM_001162427.2:c.1806dup | NP_001155899.1:p.Gln603ThrfsTer? | |
| NM_001362177.2:c.1596dup | NP_001349106.1:p.Gln533ThrfsTer? |