Canonical Allele Identifier: CA915942637

Gene: PURA

Linked Data

• ClinVar Variation Id: 817473
• ClinVar RCV Id: RCV001008603
• dbSNP Id: rs1581036360

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114588_140114616del , CM000667.2:g.140114588_140114616del	GRCh38
NC_000005.9:g.139494173_139494201del , CM000667.1:g.139494173_139494201del	GRCh37
NC_000005.8:g.139474357_139474385del	NCBI36
NG_041813.1:g.5466_5494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.407_435del MANE Select	ENSP00000332706.3:p.Gln136ArgfsTer?
ENST00000651386.1:c.407_435del	ENSP00000499133.1:p.Gln136ArgfsTer?
ENST00000331327.4:c.407_435del	ENSP00000332706.3:p.Gln136ArgfsTer?
NM_005859.4:c.407_435del	NP_005850.1:p.Gln136ArgfsTer?
NM_005859.5:c.407_435del MANE Select	NP_005850.1:p.Gln136ArgfsTer?