Canonical Allele Identifier: CA2675565396

Gene: PURA

Linked Data

• gnomAD v4: 5-140114225-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114228del , CM000667.2:g.140114228del	GRCh38
NC_000005.9:g.139493813del , CM000667.1:g.139493813del	GRCh37
NC_000005.8:g.139473997del	NCBI36
NG_041813.1:g.5106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.47del MANE Select	ENSP00000332706.3:p.Gly16ValfsTer?
ENST00000505703.2:c.47del	ENSP00000498560.1:p.Gly16ValfsTer?
ENST00000651386.1:c.47del	ENSP00000499133.1:p.Gly16ValfsTer?
ENST00000331327.4:c.47del	ENSP00000332706.3:p.Gly16ValfsTer?
ENST00000502351.1:n.470del
ENST00000505703.1:n.512del
NM_005859.4:c.47del	NP_005850.1:p.Gly16ValfsTer?
NM_005859.5:c.47del MANE Select	NP_005850.1:p.Gly16ValfsTer?