Canonical Allele Identifier: CA128789381

Gene: PURA

Linked Data

• dbSNP Id: rs950711724
• MyVariant Identifiers: chr5:g.139493718_139493719insGCGTC (hg19) ; chr5:g.140114133_140114134insGCGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114136_140114137insTCGCG , CM000667.2:g.140114136_140114137insTCGCG	GRCh38
NC_000005.9:g.139493721_139493722insTCGCG , CM000667.1:g.139493721_139493722insTCGCG	GRCh37
NC_000005.8:g.139473905_139473906insTCGCG	NCBI36
NG_041813.1:g.5014_5015insTCGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.-46_-45insTCGCG MANE Select	ENSP00000332706.3:n.-46_-45insTCGCG
ENST00000505703.2:c.-46_-45insTCGCG	ENSP00000498560.1:n.-46_-45insTCGCG
ENST00000651386.1:c.-46_-45insTCGCG	ENSP00000499133.1:n.-46_-45insTCGCG
ENST00000331327.4:c.-46_-45insTCGCG	ENSP00000332706.3:n.-46_-45insTCGCG
ENST00000502351.1:n.378_379insTCGCG
ENST00000505703.1:n.420_421insTCGCG
NM_005859.4:c.-46_-45insTCGCG	NP_005850.1:n.-46_-45insTCGCG
NM_005859.5:c.-46_-45insTCGCG MANE Select	NP_005850.1:n.-46_-45insTCGCG