Canonical Allele Identifier: CA2513137128

Gene: PURA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114273_140114346del , CM000667.2:g.140114273_140114346del	GRCh38
NC_000005.9:g.139493858_139493931del , CM000667.1:g.139493858_139493931del	GRCh37
NC_000005.8:g.139474042_139474115del	NCBI36
NG_041813.1:g.5151_5224del

Transcript Alleles

HGVS	Amino-acid change
ENST00000331327.5:c.92_165del MANE Select	ENSP00000332706.3:p.Gly31AlafsTer?
ENST00000505703.2:c.92_165del	ENSP00000498560.1:p.Gly31AlafsTer?
ENST00000651386.1:c.92_165del	ENSP00000499133.1:p.Gly31AlafsTer?
ENST00000331327.4:c.92_165del	ENSP00000332706.3:p.Gly31AlafsTer?
NM_005859.4:c.92_165del	NP_005850.1:p.Gly31AlafsTer?
NM_005859.5:c.92_165del MANE Select	NP_005850.1:p.Gly31AlafsTer?