Canonical Allele Identifier: CA2580072961

Gene: PURA

Linked Data

• ClinVar Variation Id: 1695142
• ClinVar RCV Id: RCV002263392
• dbSNP Id: rs2126748816

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114387dup , CM000667.2:g.140114387dup	GRCh38
NC_000005.9:g.139493972dup , CM000667.1:g.139493972dup	GRCh37
NC_000005.8:g.139474156dup	NCBI36
NG_041813.1:g.5265dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000331327.5:c.206dup MANE Select	ENSP00000332706.3:p.Asn70GlufsTer?
ENST00000505703.2:c.206dup	ENSP00000498560.1:p.Asn70GlufsTer?
ENST00000651386.1:c.206dup	ENSP00000499133.1:p.Asn70GlufsTer?
ENST00000331327.4:c.206dup	ENSP00000332706.3:p.Asn70GlufsTer?
NM_005859.4:c.206dup	NP_005850.1:p.Asn70GlufsTer?
NM_005859.5:c.206dup MANE Select	NP_005850.1:p.Asn70GlufsTer?