Canonical Allele Identifier: CA2837995108

Gene: PURA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114253dup , CM000667.2:g.140114253dup	GRCh38
NC_000005.9:g.139493838dup , CM000667.1:g.139493838dup	GRCh37
NC_000005.8:g.139474022dup	NCBI36
NG_041813.1:g.5131dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.72dup MANE Select	ENSP00000332706.3:p.Gly25ArgfsTer?
ENST00000505703.2:c.72dup	ENSP00000498560.1:p.Gly25ArgfsTer?
ENST00000651386.1:c.72dup	ENSP00000499133.1:p.Gly25ArgfsTer?
ENST00000331327.4:c.72dup	ENSP00000332706.3:p.Gly25ArgfsTer?
ENST00000502351.1:n.495dup
ENST00000505703.1:n.537dup
NM_005859.4:c.72dup	NP_005850.1:p.Gly25ArgfsTer?
NM_005859.5:c.72dup MANE Select	NP_005850.1:p.Gly25ArgfsTer?