Canonical Allele Identifier: CA2768634938

Gene: PURA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114138del , CM000667.2:g.140114138del	GRCh38
NC_000005.9:g.139493723del , CM000667.1:g.139493723del	GRCh37
NC_000005.8:g.139473907del	NCBI36
NG_041813.1:g.5016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.-44del MANE Select	ENSP00000332706.3:n.-44del
ENST00000505703.2:c.-44del	ENSP00000498560.1:n.-44del
ENST00000651386.1:c.-44del	ENSP00000499133.1:n.-44del
ENST00000331327.4:c.-44del	ENSP00000332706.3:n.-44del
ENST00000502351.1:n.380del
ENST00000505703.1:n.422del
NM_005859.4:c.-44del	NP_005850.1:n.-44del
NM_005859.5:c.-44del MANE Select	NP_005850.1:n.-44del