Canonical Allele Identifier: CA1586593210
Gene: PURA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114286_140114295delinsTGGCGGCGGG , CM000667.2:g.140114286_140114295delinsTGGCGGCGGG GRCh38
NC_000005.9:g.139493871_139493880delinsTGGCGGCGGG , CM000667.1:g.139493871_139493880delinsTGGCGGCGGG GRCh37
NC_000005.8:g.139474055_139474064delinsTGGCGGCGGG NCBI36
NG_041813.1:g.5164_5173delinsTGGCGGCGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.105_114delinsTGGCGGCGGG MANE Select ENSP00000332706.3:p.Gly35=
ENST00000505703.2:c.105_114delinsTGGCGGCGGG ENSP00000498560.1:p.Gly35=
ENST00000651386.1:c.105_114delinsTGGCGGCGGG ENSP00000499133.1:p.Gly35=
ENST00000331327.4:c.105_114delinsTGGCGGCGGG ENSP00000332706.3:p.Gly35=
ENST00000505703.1:n.570_579delinsTGGCGGCGGG
NM_005859.4:c.105_114delinsTGGCGGCGGG NP_005850.1:p.Gly35=
NM_005859.5:c.105_114delinsTGGCGGCGGG MANE Select NP_005850.1:p.Gly35=
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