Linked Data
ClinVar Variation Id:
162156
ClinVar RCV Id:
RCV000149562
dbSNP Id:
rs724159952
PubMed:
PMID:25920557
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37490455dup , CM000683.2:g.37490455dup | GRCh38 |
| NC_000021.8:g.38862757dup , CM000683.1:g.38862757dup | GRCh37 |
| NC_000021.7:g.37784627dup | NCBI36 |
| NG_009366.1:g.127899dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338785.8:c.945dup | ENSP00000342690.3:p.Gln316AlafsTer24 | |
| ENST00000398960.7:c.945dup | ENSP00000381932.2:p.Gln316AlafsTer24 | |
| ENST00000642309.1:c.831dup | ENSP00000495596.1:p.Gln278AlafsTer24 | |
| ENST00000643624.1:c.918dup | ENSP00000493627.1:p.Gln307AlafsTer24 | |
| ENST00000643808.1:n.748dup | ||
| ENST00000643854.1:c.831dup | ENSP00000493653.1:p.Gln278AlafsTer24 | |
| ENST00000644367.1:n.309dup | ||
| ENST00000644942.1:c.945dup | ENSP00000494544.1:p.Gln316AlafsTer24 | |
| ENST00000645424.1:c.945dup | ENSP00000494897.1:p.Gln316AlafsTer24 | |
| ENST00000645774.1:c.966dup | ENSP00000494536.1:p.Gln323AlafsTer24 | |
| ENST00000646224.1:n.360dup | ||
| ENST00000646523.1:c.945dup | ENSP00000495632.1:p.Gln316AlafsTer24 | |
| ENST00000646548.1:c.918dup | ENSP00000495908.1:p.Gln307AlafsTer24 | |
| ENST00000647188.2:c.918dup MANE Select | ENSP00000494572.1:p.Gln307AlafsTer24 | |
| ENST00000647425.1:c.918dup | ENSP00000496748.1:p.Gln307AlafsTer24 | |
| ENST00000647504.1:c.831dup | ENSP00000495571.1:p.Gln278AlafsTer24 | |
| ENST00000338785.7:c.945dup | ENSP00000342690.3:p.Gln316AlafsTer24 | |
| ENST00000339659.8:c.918dup | ENSP00000340373.3:p.Gln307AlafsTer24 | |
| ENST00000398956.2:c.945dup | ENSP00000381929.2:p.Gln316AlafsTer24 | |
| ENST00000398960.6:c.945dup | ENSP00000381932.2:p.Gln316AlafsTer24 | |
| NM_001396.3:c.945dup | NP_001387.2:p.Gln316AlafsTer24 | |
| NM_101395.2:c.945dup | NP_567824.1:p.Gln316AlafsTer24 | |
| NM_130436.2:c.918dup | NP_569120.1:p.Gln307AlafsTer24 | |
| NM_130438.2:c.945dup | NP_569122.1:p.Gln316AlafsTer24 | |
| XM_005260931.3:c.858dup | XP_005260988.1:p.Gln287AlafsTer24 | |
| XM_005260933.3:c.261dup | XP_005260990.1:p.Gln88AlafsTer24 | |
| XM_006723976.2:c.945dup | XP_006724039.1:p.Gln316AlafsTer24 | |
| XM_006723977.2:c.945dup | XP_006724040.1:p.Gln316AlafsTer24 | |
| XM_006723978.2:c.945dup | XP_006724041.1:p.Gln316AlafsTer24 | |
| XM_006723979.2:c.918dup | XP_006724042.1:p.Gln307AlafsTer24 | |
| XM_011529482.1:c.966dup | XP_011527784.1:p.Gln323AlafsTer24 | |
| XM_011529483.1:c.945dup | XP_011527785.1:p.Gln316AlafsTer24 | |
| XM_011529484.1:c.939dup | XP_011527786.1:p.Gln314AlafsTer24 | |
| XM_011529485.1:c.831dup | XP_011527787.1:p.Gln278AlafsTer24 | |
| NM_001347721.1:c.918dup | NP_001334650.1:p.Gln307AlafsTer24 | |
| NM_001347722.1:c.918dup | NP_001334651.1:p.Gln307AlafsTer24 | |
| NM_001347723.1:c.831dup | NP_001334652.1:p.Gln278AlafsTer24 | |
| NM_001396.4:c.945dup | NP_001387.2:p.Gln316AlafsTer24 | |
| XM_005260933.5:c.261dup | XP_005260990.1:p.Gln88AlafsTer24 | |
| XM_006723976.3:c.945dup | XP_006724039.1:p.Gln316AlafsTer24 | |
| XM_006723977.3:c.945dup | XP_006724040.1:p.Gln316AlafsTer24 | |
| XM_006723978.3:c.945dup | XP_006724041.1:p.Gln316AlafsTer24 | |
| XM_011529483.2:c.945dup | XP_011527785.1:p.Gln316AlafsTer24 | |
| XM_017028284.1:c.918dup | XP_016883773.1:p.Gln307AlafsTer24 | |
| XM_017028286.2:c.858dup | XP_016883775.1:p.Gln287AlafsTer24 | |
| XM_024452057.1:c.831dup | XP_024307825.1:p.Gln278AlafsTer24 | |
| NM_001347721.2:c.918dup MANE Select | NP_001334650.1:p.Gln307AlafsTer24 | |
| NM_001347722.2:c.918dup | NP_001334651.1:p.Gln307AlafsTer24 | |
| NM_001347723.2:c.831dup | NP_001334652.1:p.Gln278AlafsTer24 | |
| NM_001396.5:c.945dup | NP_001387.2:p.Gln316AlafsTer24 |