Canonical Allele Identifier: CA645293870
Gene: RPS10 HGNC NCBI
RPS10-NUDT3 HGNC NCBI

Linked Data

ClinVar Variation Id: 225461
ClinVar RCV Id: RCV000490474
dbSNP Id: rs1554164160

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.34424665_34424667dup , CM000668.2:g.34424665_34424667dup GRCh38
NC_000006.11:g.34392442_34392444dup , CM000668.1:g.34392442_34392444dup GRCh37
NC_000006.10:g.34500420_34500422dup NCBI36
NG_023200.1:g.6433_6435dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000344700.8:c.322+2_322+4dup (RPS10) ENSP00000363169.1:n.322+2_322+4dup
ENST00000494077.6:c.322+2_322+4dup (RPS10-NUDT3) ENSP00000495405.1:n.322+2_322+4dup
ENST00000605528.2:c.249+2_249+4dup (RPS10-NUDT3)
ENST00000621356.3:c.322+2_322+4dup (RPS10) ENSP00000481646.1:n.322+2_322+4dup
ENST00000639725.1:c.322+2_322+4dup (RPS10-NUDT3) ENSP00000492441.1:n.322+2_322+4dup
ENST00000639877.1:c.322+2_322+4dup (RPS10-NUDT3) ENSP00000491891.1:n.322+2_322+4dup
ENST00000644393.1:c.322+2_322+4dup (RPS10) ENSP00000496022.1:n.322+2_322+4dup
ENST00000644700.1:c.322+2_322+4dup (RPS10) ENSP00000495142.1:n.322+2_322+4dup
ENST00000648437.1:c.322+2_322+4dup (RPS10) MANE Select ENSP00000497917.1:n.322+2_322+4dup
ENST00000326199.12:c.322+2_322+4dup (RPS10) ENSP00000347271.6:n.322+2_322+4dup
ENST00000344700.7:c.322+2_322+4dup (RPS10) ENSP00000363169.1:n.322+2_322+4dup
ENST00000464218.5:n.387+2_387+4dup (RPS10)
ENST00000467531.5:n.549+2_549+4dup (RPS10)
ENST00000480942.1:n.343_345dup (RPS10)
ENST00000494077.5:n.553+2_553+4dup (RPS10)
ENST00000605528.1:c.322+2_322+4dup (RPS10-NUDT3) ENSP00000475027.1:n.322+2_322+4dup
ENST00000621356.2:c.322+2_322+4dup (RPS10) ENSP00000481646.1:n.322+2_322+4dup
NM_001014.4:c.322+2_322+4dup (RPS10) NP_001005.1:n.322+2_322+4dup
NM_001202470.2:c.322+2_322+4dup (RPS10-NUDT3) NP_001189399.1:n.322+2_322+4dup
NM_001203245.2:c.322+2_322+4dup (RPS10) NP_001190174.1:n.322+2_322+4dup
NM_001204091.1:c.322+2_322+4dup (RPS10) NP_001191020.1:n.322+2_322+4dup
NM_001014.5:c.322+2_322+4dup (RPS10) MANE Select NP_001005.1:n.322+2_322+4dup
NM_001203245.3:c.322+2_322+4dup (RPS10) NP_001190174.1:n.322+2_322+4dup
NM_001204091.2:c.322+2_322+4dup (RPS10) NP_001191020.1:n.322+2_322+4dup
NM_001202470.3:c.322+2_322+4dup (RPS10-NUDT3) NP_001189399.1:n.322+2_322+4dup