Canonical Allele Identifier: CA917594019

Gene: PURA

Linked Data

• dbSNP Id: rs1561792843
• gnomAD v4: 5-140113986-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140113987dup , CM000667.2:g.140113987dup	GRCh38
NC_000005.9:g.139493572dup , CM000667.1:g.139493572dup	GRCh37
NC_000005.8:g.139473756dup	NCBI36
NG_041813.1:g.4865dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505703.2:c.-141-54dup	ENSP00000498560.1:n.-141-54dup
ENST00000651386.1:c.-141-54dup	ENSP00000499133.1:n.-141-54dup
ENST00000502351.1:n.283-54dup
ENST00000505703.1:n.325-54dup