Canonical Allele Identifier: CA2768634947

Gene: PURA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114696_140114714del , CM000667.2:g.140114696_140114714del	GRCh38
NC_000005.9:g.139494281_139494299del , CM000667.1:g.139494281_139494299del	GRCh37
NC_000005.8:g.139474465_139474483del	NCBI36
NG_041813.1:g.5574_5592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.515_533del MANE Select	ENSP00000332706.3:p.Gln172LeufsTer?
ENST00000651386.1:c.515_533del	ENSP00000499133.1:p.Gln172LeufsTer?
ENST00000331327.4:c.515_533del	ENSP00000332706.3:p.Gln172LeufsTer?
NM_005859.4:c.515_533del	NP_005850.1:p.Gln172LeufsTer?
NM_005859.5:c.515_533del MANE Select	NP_005850.1:p.Gln172LeufsTer?