Canonical Allele Identifier: CA2710236412

Gene: PURA

Linked Data

• dbSNP Id: rs2126748459

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114144_140114149del , CM000667.2:g.140114144_140114149del	GRCh38
NC_000005.9:g.139493729_139493734del , CM000667.1:g.139493729_139493734del	GRCh37
NC_000005.8:g.139473913_139473918del	NCBI36
NG_041813.1:g.5022_5027del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.-38_-33del MANE Select	ENSP00000332706.3:n.-38_-33del
ENST00000505703.2:c.-38_-33del	ENSP00000498560.1:n.-38_-33del
ENST00000651386.1:c.-38_-33del	ENSP00000499133.1:n.-38_-33del
ENST00000331327.4:c.-38_-33del	ENSP00000332706.3:n.-38_-33del
ENST00000502351.1:n.386_391del
ENST00000505703.1:n.428_433del
NM_005859.4:c.-38_-33del	NP_005850.1:n.-38_-33del
NM_005859.5:c.-38_-33del MANE Select	NP_005850.1:n.-38_-33del