Canonical Allele Identifier: CA2675565292

Gene: PURA

Linked Data

• gnomAD v4: 5-140114139-C-CCCCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114139_140114140insCCCAGG , CM000667.2:g.140114139_140114140insCCCAGG	GRCh38
NC_000005.9:g.139493724_139493725insCCCAGG , CM000667.1:g.139493724_139493725insCCCAGG	GRCh37
NC_000005.8:g.139473908_139473909insCCCAGG	NCBI36
NG_041813.1:g.5017_5018insCCCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.-43_-42insCCCAGG MANE Select	ENSP00000332706.3:n.-43_-42insCCCAGG
ENST00000505703.2:c.-43_-42insCCCAGG	ENSP00000498560.1:n.-43_-42insCCCAGG
ENST00000651386.1:c.-43_-42insCCCAGG	ENSP00000499133.1:n.-43_-42insCCCAGG
ENST00000331327.4:c.-43_-42insCCCAGG	ENSP00000332706.3:n.-43_-42insCCCAGG
ENST00000502351.1:n.381_382insCCCAGG
ENST00000505703.1:n.423_424insCCCAGG
NM_005859.4:c.-43_-42insCCCAGG	NP_005850.1:n.-43_-42insCCCAGG
NM_005859.5:c.-43_-42insCCCAGG MANE Select	NP_005850.1:n.-43_-42insCCCAGG