Canonical Allele Identifier: CA2675565407
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114283-T-TGGTGGCGGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114286_140114294dup , CM000667.2:g.140114286_140114294dup GRCh38
NC_000005.9:g.139493871_139493879dup , CM000667.1:g.139493871_139493879dup GRCh37
NC_000005.8:g.139474055_139474063dup NCBI36
NG_041813.1:g.5164_5172dup

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.105_113dup MANE Select ENSP00000332706.3:p.Gly38_Gly39insGlyGlyGly
ENST00000505703.2:c.105_113dup ENSP00000498560.1:p.Gly38_Gly39insGlyGlyGly
ENST00000651386.1:c.105_113dup ENSP00000499133.1:p.Gly38_Gly39insGlyGlyGly
ENST00000331327.4:c.105_113dup ENSP00000332706.3:p.Gly38_Gly39insGlyGlyGly
ENST00000505703.1:n.570_578dup
NM_005859.4:c.105_113dup NP_005850.1:p.Gly38_Gly39insGlyGlyGly
NM_005859.5:c.105_113dup MANE Select NP_005850.1:p.Gly38_Gly39insGlyGlyGly
Search 100 bp 5'
Search 100 bp 3'