Canonical Allele Identifier: CA915942639

Gene: PURA

Linked Data

• ClinVar Variation Id: 802158
• ClinVar RCV Id: RCV000987605
• dbSNP Id: rs1581036405

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114630_140114637del , CM000667.2:g.140114630_140114637del	GRCh38
NC_000005.9:g.139494215_139494222del , CM000667.1:g.139494215_139494222del	GRCh37
NC_000005.8:g.139474399_139474406del	NCBI36
NG_041813.1:g.5508_5515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.449_456del MANE Select	ENSP00000332706.3:p.Arg150ProfsTer?
ENST00000651386.1:c.449_456del	ENSP00000499133.1:p.Arg150ProfsTer?
ENST00000331327.4:c.449_456del	ENSP00000332706.3:p.Arg150ProfsTer?
NM_005859.4:c.449_456del	NP_005850.1:p.Arg150ProfsTer?
NM_005859.5:c.449_456del MANE Select	NP_005850.1:p.Arg150ProfsTer?