Canonical Allele Identifier: CA2675565267

Gene: PURA

Linked Data

• gnomAD v4: 5-140114130-GGCGGCGGGCGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114136_140114147del , CM000667.2:g.140114136_140114147del	GRCh38
NC_000005.9:g.139493721_139493732del , CM000667.1:g.139493721_139493732del	GRCh37
NC_000005.8:g.139473905_139473916del	NCBI36
NG_041813.1:g.5014_5025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.-46_-35del MANE Select	ENSP00000332706.3:n.-46_-35del
ENST00000505703.2:c.-46_-35del	ENSP00000498560.1:n.-46_-35del
ENST00000651386.1:c.-46_-35del	ENSP00000499133.1:n.-46_-35del
ENST00000331327.4:c.-46_-35del	ENSP00000332706.3:n.-46_-35del
ENST00000502351.1:n.378_389del
ENST00000505703.1:n.420_431del
NM_005859.4:c.-46_-35del	NP_005850.1:n.-46_-35del
NM_005859.5:c.-46_-35del MANE Select	NP_005850.1:n.-46_-35del