Canonical Allele Identifier: CA2675565225

Gene: PURA

Linked Data

• gnomAD v4: 5-140114109-AGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114115_140114117del , CM000667.2:g.140114115_140114117del	GRCh38
NC_000005.9:g.139493700_139493702del , CM000667.1:g.139493700_139493702del	GRCh37
NC_000005.8:g.139473884_139473886del	NCBI36
NG_041813.1:g.4993_4995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.-67_-65del MANE Select	ENSP00000332706.3:n.-67_-65del
ENST00000505703.2:c.-67_-65del	ENSP00000498560.1:n.-67_-65del
ENST00000651386.1:c.-67_-65del	ENSP00000499133.1:n.-67_-65del
ENST00000502351.1:n.357_359del
ENST00000505703.1:n.399_401del
NM_005859.5:c.-67_-65del MANE Select	NP_005850.1:n.-67_-65del