Canonical Allele Identifier: CA2695198761

Gene: PURA

Linked Data

• ClinVar Variation Id: 2664981
• ClinVar RCV Id: RCV003448531

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114721_140114725dup , CM000667.2:g.140114721_140114725dup	GRCh38
NC_000005.9:g.139494306_139494310dup , CM000667.1:g.139494306_139494310dup	GRCh37
NC_000005.8:g.139474490_139474494dup	NCBI36
NG_041813.1:g.5599_5603dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.540_544dup MANE Select	ENSP00000332706.3:p.Ser182TrpfsTer?
ENST00000651386.1:c.540_544dup	ENSP00000499133.1:p.Ser182TrpfsTer?
ENST00000331327.4:c.540_544dup	ENSP00000332706.3:p.Ser182TrpfsTer?
NM_005859.4:c.540_544dup	NP_005850.1:p.Ser182TrpfsTer?
NM_005859.5:c.540_544dup MANE Select	NP_005850.1:p.Ser182TrpfsTer?