Canonical Allele Identifier: CA1082183665

Gene: PURA

Linked Data

• dbSNP Id: rs1763033143
• gnomAD v3: 5-140114136-G-GGGCGGAGCGGCAGGCGGC
• gnomAD v4: 5-140114136-G-GGGCGGAGCGGCAGGCGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114142_140114159dup , CM000667.2:g.140114142_140114159dup	GRCh38
NC_000005.9:g.139493727_139493744dup , CM000667.1:g.139493727_139493744dup	GRCh37
NC_000005.8:g.139473911_139473928dup	NCBI36
NG_041813.1:g.5020_5037dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.-40_-23dup MANE Select	ENSP00000332706.3:n.-40_-23dup
ENST00000505703.2:c.-40_-23dup	ENSP00000498560.1:n.-40_-23dup
ENST00000651386.1:c.-40_-23dup	ENSP00000499133.1:n.-40_-23dup
ENST00000331327.4:c.-40_-23dup	ENSP00000332706.3:n.-40_-23dup
ENST00000502351.1:n.384_401dup
ENST00000505703.1:n.426_443dup
NM_005859.4:c.-40_-23dup	NP_005850.1:n.-40_-23dup
NM_005859.5:c.-40_-23dup MANE Select	NP_005850.1:n.-40_-23dup