Canonical Allele Identifier: CA658683429

Gene: PURA

Linked Data

• ClinVar Variation Id: 488583
• ClinVar RCV Id: RCV000578301
• dbSNP Id: rs1554129069
• MyVariant Identifiers: chr5:g.139494128_139494129insCG (hg19) ; chr5:g.140114543_140114544insCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114547_140114548dup , CM000667.2:g.140114547_140114548dup	GRCh38
NC_000005.9:g.139494132_139494133dup , CM000667.1:g.139494132_139494133dup	GRCh37
NC_000005.8:g.139474316_139474317dup	NCBI36
NG_041813.1:g.5425_5426dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.366_367dup MANE Select	ENSP00000332706.3:p.Gln123ArgfsTer?
ENST00000651386.1:c.366_367dup	ENSP00000499133.1:p.Gln123ArgfsTer?
ENST00000331327.4:c.366_367dup	ENSP00000332706.3:p.Gln123ArgfsTer?
NM_005859.4:c.366_367dup	NP_005850.1:p.Gln123ArgfsTer?
NM_005859.5:c.366_367dup MANE Select	NP_005850.1:p.Gln123ArgfsTer?