Canonical Allele Identifier: CA658774050

Gene: PURA

Linked Data

• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114927_140114930dup , CM000667.2:g.140114927_140114930dup	GRCh38
NC_000005.9:g.139494512_139494515dup , CM000667.1:g.139494512_139494515dup	GRCh37
NC_000005.8:g.139474696_139474699dup	NCBI36
NG_041813.1:g.5805_5808dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.746_749dup MANE Select	ENSP00000332706.3:p.Lys250AsnfsTer?
ENST00000651386.1:c.746_749dup	ENSP00000499133.1:p.Lys250AsnfsTer?
ENST00000331327.4:c.746_749dup	ENSP00000332706.3:p.Lys250AsnfsTer?
NM_005859.4:c.746_749dup	NP_005850.1:p.Lys250AsnfsTer?
NM_005859.5:c.746_749dup MANE Select	NP_005850.1:p.Lys250AsnfsTer?