Canonical Allele Identifier: CA2573052440

Gene: PURA

Linked Data

• ClinVar Variation Id: 1320216
• ClinVar RCV Id: RCV001775389
• dbSNP Id: rs2126749241

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114744_140114759del , CM000667.2:g.140114744_140114759del	GRCh38
NC_000005.9:g.139494329_139494344del , CM000667.1:g.139494329_139494344del	GRCh37
NC_000005.8:g.139474513_139474528del	NCBI36
NG_041813.1:g.5622_5637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.563_578del MANE Select	ENSP00000332706.3:p.Ile188ArgfsTer?
ENST00000651386.1:c.563_578del	ENSP00000499133.1:p.Ile188ArgfsTer?
ENST00000331327.4:c.563_578del	ENSP00000332706.3:p.Ile188ArgfsTer?
NM_005859.4:c.563_578del	NP_005850.1:p.Ile188ArgfsTer?
NM_005859.5:c.563_578del MANE Select	NP_005850.1:p.Ile188ArgfsTer?