Canonical Allele Identifier: CA1586592753

Gene: PURA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114163_140114173delinsGGCAGCGGAGC , CM000667.2:g.140114163_140114173delinsGGCAGCGGAGC	GRCh38
NC_000005.9:g.139493748_139493758delinsGGCAGCGGAGC , CM000667.1:g.139493748_139493758delinsGGCAGCGGAGC	GRCh37
NC_000005.8:g.139473932_139473942delinsGGCAGCGGAGC	NCBI36
NG_041813.1:g.5041_5051delinsGGCAGCGGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.-19_-9delinsGGCAGCGGAGC MANE Select	ENSP00000332706.3:n.-19_-9delinsGGCAGCGGAGC
ENST00000505703.2:c.-19_-9delinsGGCAGCGGAGC	ENSP00000498560.1:n.-19_-9delinsGGCAGCGGAGC
ENST00000651386.1:c.-19_-9delinsGGCAGCGGAGC	ENSP00000499133.1:n.-19_-9delinsGGCAGCGGAGC
ENST00000331327.4:c.-19_-9delinsGGCAGCGGAGC	ENSP00000332706.3:n.-19_-9delinsGGCAGCGGAGC
ENST00000502351.1:n.405_415delinsGGCAGCGGAGC
ENST00000505703.1:n.447_457delinsGGCAGCGGAGC
NM_005859.4:c.-19_-9delinsGGCAGCGGAGC	NP_005850.1:n.-19_-9delinsGGCAGCGGAGC
NM_005859.5:c.-19_-9delinsGGCAGCGGAGC MANE Select	NP_005850.1:n.-19_-9delinsGGCAGCGGAGC