Canonical Allele Identifier: CA2841459805
Gene: RPUSD3 HGNC NCBI
TTLL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9839118dup , CM000665.2:g.9839118dup GRCh38
NC_000003.11:g.9880802dup , CM000665.1:g.9880802dup GRCh37
NC_000003.10:g.9855802dup NCBI36
NG_054931.1:g.9904dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000383820.10:c.757dup (RPUSD3) MANE Select ENSP00000373331.6:p.Asp253GlyfsTer21
ENST00000433535.7:c.712dup (RPUSD3) ENSP00000398921.3:p.Asp238GlyfsTer21
ENST00000383820.9:c.781dup (RPUSD3) ENSP00000373331.5:p.Asp261GlyfsTer21
ENST00000423108.5:c.267dup (RPUSD3)
ENST00000424438.5:c.629-908dup (RPUSD3) ENSP00000408693.1:n.629-908dup
ENST00000427174.5:c.781dup (RPUSD3)
ENST00000433535.6:c.736dup (RPUSD3) ENSP00000398921.2:p.Asp246GlyfsTer21
ENST00000455274.5:c.918+9723dup (TTLL3) ENSP00000409632.1:n.918+9723dup
ENST00000464783.1:n.740dup (RPUSD3)
ENST00000466141.1:n.599dup (RPUSD3)
NM_001142547.1:c.736dup (RPUSD3) NP_001136019.1:p.Asp246GlyfsTer21
NM_173659.3:c.781dup (RPUSD3) NP_775930.2:p.Asp261GlyfsTer21
XM_011533627.1:c.725-908dup (RPUSD3) XP_011531929.1:n.725-908dup
NM_001142547.2:c.736dup (RPUSD3) NP_001136019.1:p.Asp246GlyfsTer21
NM_001351736.1:c.629-908dup (RPUSD3) NP_001338665.1:n.629-908dup
NM_001351737.1:c.725-908dup (RPUSD3) NP_001338666.1:n.725-908dup
NM_001351738.1:c.809dup (RPUSD3) NP_001338667.1:p.Pro271ThrfsTer?
NM_173659.4:c.781dup (RPUSD3) NP_775930.2:p.Asp261GlyfsTer21
XM_024453471.1:c.781dup (RPUSD3) XP_024309239.1:p.Asp261GlyfsTer21
XM_024453472.1:c.724+1069dup (RPUSD3) XP_024309240.1:n.724+1069dup
NM_001351736.2:c.629-908dup (RPUSD3) NP_001338665.1:n.629-908dup
NM_001351736.3:c.629-908dup (RPUSD3) NP_001338665.1:n.629-908dup
NM_001142547.3:c.712dup (RPUSD3) NP_001136019.2:p.Asp238GlyfsTer21
NM_001351737.2:c.701-908dup (RPUSD3) NP_001338666.2:n.701-908dup
NM_001351738.2:c.785dup (RPUSD3) NP_001338667.2:p.Pro263ThrfsTer?
NM_173659.5:c.757dup (RPUSD3) MANE Select NP_775930.3:p.Asp253GlyfsTer21