Canonical Allele Identifier: CA658657545

Gene: PURA

Linked Data

• ClinVar Variation Id: 452213
• ClinVar RCV Id: RCV000522563
• dbSNP Id: rs1554129000

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114195_140114206delinsC , CM000667.2:g.140114195_140114206delinsC	GRCh38
NC_000005.9:g.139493780_139493791delinsC , CM000667.1:g.139493780_139493791delinsC	GRCh37
NC_000005.8:g.139473964_139473975delinsC	NCBI36
NG_041813.1:g.5073_5084delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.14_25delinsC MANE Select	ENSP00000332706.3:p.Asp5AlafsTer?
ENST00000505703.2:c.14_25delinsC	ENSP00000498560.1:p.Asp5AlafsTer?
ENST00000651386.1:c.14_25delinsC	ENSP00000499133.1:p.Asp5AlafsTer?
ENST00000331327.4:c.14_25delinsC	ENSP00000332706.3:p.Asp5AlafsTer?
ENST00000502351.1:n.437_448delinsC
ENST00000505703.1:n.479_490delinsC
NM_005859.4:c.14_25delinsC	NP_005850.1:p.Asp5AlafsTer?
NM_005859.5:c.14_25delinsC MANE Select	NP_005850.1:p.Asp5AlafsTer?