Canonical Allele Identifier: CA16042711
Gene: PUF60 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372883
ClinVar RCV Id: RCV000413181
dbSNP Id: rs1057518046

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143818211dup , CM000670.2:g.143818211dup GRCh38
NC_000008.9:g.144972369dup NCBI36
NG_030583.1:g.2174dup
NG_033879.1:g.16181dup

Transcript Alleles

HGVS Amino-acid change
NM_001136033.2:c.461dup VV
NM_001271096.1:c.536dup VV
NM_001271097.1:c.452dup VV
NM_001271098.1:c.587dup VV
NM_001271099.1:c.503dup VV
NM_001271100.1:c.410dup VV
NM_014281.4:c.539dup VV
NM_078480.2:c.590dup VV
XM_011516929.1:c.701dup
XM_011516930.1:c.650dup
NM_001362895.1:c.701dup VV
NM_001362896.1:c.701dup VV
NM_001362897.1:c.650dup VV
XM_017013234.1:c.701dup
XM_017013235.1:c.665dup
XM_017013236.1:c.650dup
XM_017013239.1:c.461dup
XM_017013240.1:c.410dup
ENST00000313352.11:c.410dup
ENST00000349157.10:c.539dup
ENST00000453551.6:c.461dup
ENST00000456095.6:n.503dup
ENST00000524570.5:n.1276dup
ENST00000526459.5:c.536dup
ENST00000526683.5:c.590dup
ENST00000527197.5:c.452dup
ENST00000527744.5:n.583dup
ENST00000528320.5:n.602dup
ENST00000528999.5:n.321dup
ENST00000529693.1:n.671dup
ENST00000529999.5:c.650dup
ENST00000531897.5:c.650dup
ENST00000531951.5:n.750dup
ENST00000532884.1:n.184dup