Canonical Allele Identifier: CA1586592720

Gene: PURA

Linked Data

• dbSNP Id: rs1763033495
• gnomAD v4: 5-140114149-G-GGCGGCGGCGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114155_140114165dup , CM000667.2:g.140114155_140114165dup	GRCh38
NC_000005.9:g.139493740_139493750dup , CM000667.1:g.139493740_139493750dup	GRCh37
NC_000005.8:g.139473924_139473934dup	NCBI36
NG_041813.1:g.5033_5043dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.-27_-17dup MANE Select	ENSP00000332706.3:n.-27_-17dup
ENST00000505703.2:c.-27_-17dup	ENSP00000498560.1:n.-27_-17dup
ENST00000651386.1:c.-27_-17dup	ENSP00000499133.1:n.-27_-17dup
ENST00000331327.4:c.-27_-17dup	ENSP00000332706.3:n.-27_-17dup
ENST00000502351.1:n.397_407dup
ENST00000505703.1:n.439_449dup
NM_005859.4:c.-27_-17dup	NP_005850.1:n.-27_-17dup
NM_005859.5:c.-27_-17dup MANE Select	NP_005850.1:n.-27_-17dup