Canonical Allele Identifier: CA1586592643

Gene: PURA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114136_140114148delinsGGGCGGAGCGGCA , CM000667.2:g.140114136_140114148delinsGGGCGGAGCGGCA	GRCh38
NC_000005.9:g.139493721_139493733delinsGGGCGGAGCGGCA , CM000667.1:g.139493721_139493733delinsGGGCGGAGCGGCA	GRCh37
NC_000005.8:g.139473905_139473917delinsGGGCGGAGCGGCA	NCBI36
NG_041813.1:g.5014_5026delinsGGGCGGAGCGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.-46_-34delinsGGGCGGAGCGGCA MANE Select	ENSP00000332706.3:n.-46_-34delinsGGGCGGAGCGGCA
ENST00000505703.2:c.-46_-34delinsGGGCGGAGCGGCA	ENSP00000498560.1:n.-46_-34delinsGGGCGGAGCGGCA
ENST00000651386.1:c.-46_-34delinsGGGCGGAGCGGCA	ENSP00000499133.1:n.-46_-34delinsGGGCGGAGCGGCA
ENST00000331327.4:c.-46_-34delinsGGGCGGAGCGGCA	ENSP00000332706.3:n.-46_-34delinsGGGCGGAGCGGCA
ENST00000502351.1:n.378_390delinsGGGCGGAGCGGCA
ENST00000505703.1:n.420_432delinsGGGCGGAGCGGCA
NM_005859.4:c.-46_-34delinsGGGCGGAGCGGCA	NP_005850.1:n.-46_-34delinsGGGCGGAGCGGCA
NM_005859.5:c.-46_-34delinsGGGCGGAGCGGCA MANE Select	NP_005850.1:n.-46_-34delinsGGGCGGAGCGGCA