Canonical Allele Identifier: CA2675565257

Gene: PURA

Linked Data

• gnomAD v4: 5-140114126-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114127_140114128del , CM000667.2:g.140114127_140114128del	GRCh38
NC_000005.9:g.139493712_139493713del , CM000667.1:g.139493712_139493713del	GRCh37
NC_000005.8:g.139473896_139473897del	NCBI36
NG_041813.1:g.5005_5006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.-55_-54del MANE Select	ENSP00000332706.3:n.-55_-54del
ENST00000505703.2:c.-55_-54del	ENSP00000498560.1:n.-55_-54del
ENST00000651386.1:c.-55_-54del	ENSP00000499133.1:n.-55_-54del
ENST00000331327.4:c.-55_-54del	ENSP00000332706.3:n.-55_-54del
ENST00000502351.1:n.369_370del
ENST00000505703.1:n.411_412del
NM_005859.4:c.-55_-54del	NP_005850.1:n.-55_-54del
NM_005859.5:c.-55_-54del MANE Select	NP_005850.1:n.-55_-54del