Canonical Allele Identifier: CA1139667131
Community Standard Title: NM_001018050.4(POLR3H):c.*761dup

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41528523dup , CM000684.2:g.41528523dup GRCh38
NC_000022.10:g.41924527dup , CM000684.1:g.41924527dup GRCh37
NC_000022.9:g.40254473dup NCBI36
NG_032143.1:g.64399dup

Transcript Alleles

HGVS Amino-acid Change
NM_001018050.4:c.*761dup (POLR3H) MANE Select NP_001018060.1:n.*761dup
NM_001098.3:c.2253dup (ACO2) MANE Select NP_001089.1:p.Ile752HisfsTer13
ENST00000216254.9:c.2253dup (ACO2) MANE Select ENSP00000216254.4:p.Ile752HisfsTer13
ENST00000355209.9:c.*761dup (POLR3H) MANE Select ENSP00000347345.4:n.*761dup
NM_001018050.3:c.*761dup (POLR3H) NP_001018060.1:n.*761dup
NM_001018052.3:c.*761dup (POLR3H) NP_001018062.1:n.*761dup
NM_001018052.4:c.*761dup (POLR3H) NP_001018062.1:n.*761dup
NM_001098.2:c.2253dup (ACO2) NP_001089.1:p.Ile752HisfsTer13
NM_001282884.1:c.*761dup (POLR3H) NP_001269813.1:n.*761dup
NM_001282884.2:c.*761dup (POLR3H) NP_001269813.1:n.*761dup
NM_001282885.1:c.*761dup (POLR3H) NP_001269814.1:n.*761dup
NM_001282885.2:c.*761dup (POLR3H) NP_001269814.1:n.*761dup
NM_138338.4:c.*761dup (POLR3H) NP_612211.1:n.*761dup
NM_138338.5:c.*761dup (POLR3H) NP_612211.1:n.*761dup
ENST00000216254.8:c.2253dup (ACO2) ENSP00000216254.4:p.Ile752HisfsTer13
ENST00000355209.8:c.*761dup (POLR3H) ENSP00000347345.4:n.*761dup
ENST00000396504.6:c.*761dup (POLR3H) ENSP00000379761.2:n.*761dup
ENST00000396512.3:c.2328dup (ACO2) ENSP00000379769.3:p.Ile777HisfsTer13
ENST00000676664.1:c.2316dup (ACO2) ENSP00000503709.1:n.2316dup
ENST00000676714.1:c.*2171dup (ACO2) ENSP00000504699.1:n.*2171dup
ENST00000676748.1:c.2154dup (ACO2) ENSP00000503371.1:p.Ile719HisfsTer13
ENST00000676792.1:c.2088dup (ACO2) ENSP00000503590.1:p.Ile697HisfsTer13
ENST00000676822.1:n.2501dup (ACO2)
ENST00000676883.1:n.2272dup (ACO2)
ENST00000676959.1:c.*710dup (ACO2) ENSP00000504377.1:n.*710dup
ENST00000677007.1:c.*1028dup (ACO2) ENSP00000504634.1:n.*1028dup
ENST00000677153.1:c.2154dup (ACO2) ENSP00000504453.1:p.Ile719HisfsTer13
ENST00000677492.1:n.3212dup (ACO2)
ENST00000677516.1:c.*1652dup (ACO2) ENSP00000503370.1:n.*1652dup
ENST00000677532.1:c.2277dup (ACO2) ENSP00000503471.1:p.Ile760HisfsTer13
ENST00000677554.1:c.2061dup (ACO2) ENSP00000504513.1:p.Ile688HisfsTer13
ENST00000677698.1:c.2626dup (ACO2)
ENST00000678269.1:c.2328dup (ACO2) ENSP00000504150.1:p.Ile777HisfsTer13
ENST00000678394.1:n.2968dup (ACO2)
ENST00000678600.1:n.2774dup (ACO2)
ENST00000678688.1:c.*1489dup (ACO2) ENSP00000503990.1:n.*1489dup
ENST00000678788.1:c.2238dup (ACO2) ENSP00000504684.1:p.Ile747HisfsTer13
ENST00000678819.1:c.*2116dup (ACO2) ENSP00000503199.1:n.*2116dup
ENST00000679264.1:n.3234dup (ACO2)
ENST00000679284.1:n.2146dup (ACO2)
ENST00000679311.1:n.2500dup (ACO2)
ENST00000679320.1:c.*121dup (ACO2) ENSP00000504780.1:n.*121dup
XM_017028812.1:c.2154dup (ACO2) XP_016884301.1:p.Ile719HisfsTer13
XM_024452250.1:c.2253dup (ACO2) XP_024308018.1:p.Ile752HisfsTer13