Canonical Allele Identifier: CA915942635

Gene: PURA

Linked Data

• ClinVar Variation Id: 818050
• ClinVar RCV Id: RCV001009294
• dbSNP Id: rs1581036262

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114462del , CM000667.2:g.140114462del	GRCh38
NC_000005.9:g.139494047del , CM000667.1:g.139494047del	GRCh37
NC_000005.8:g.139474231del	NCBI36
NG_041813.1:g.5340del

Transcript Alleles

HGVS	Amino-acid change
ENST00000331327.5:c.281del MANE Select	ENSP00000332706.3:p.Gly94AlafsTer?
ENST00000505703.2:c.281del	ENSP00000498560.1:p.Gly94AlafsTer?
ENST00000651386.1:c.281del	ENSP00000499133.1:p.Gly94AlafsTer?
ENST00000331327.4:c.281del	ENSP00000332706.3:p.Gly94AlafsTer?
NM_005859.4:c.281del	NP_005850.1:p.Gly94AlafsTer?
NM_005859.5:c.281del MANE Select	NP_005850.1:p.Gly94AlafsTer?