Canonical Allele Identifier: CA2675565403
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114274-C-CGGGGGCGGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114277_140114285dup , CM000667.2:g.140114277_140114285dup GRCh38
NC_000005.9:g.139493862_139493870dup , CM000667.1:g.139493862_139493870dup GRCh37
NC_000005.8:g.139474046_139474054dup NCBI36
NG_041813.1:g.5155_5163dup

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.96_104dup MANE Select ENSP00000332706.3:p.Gly35_Gly36insGlyGlyGly
ENST00000505703.2:c.96_104dup ENSP00000498560.1:p.Gly35_Gly36insGlyGlyGly
ENST00000651386.1:c.96_104dup ENSP00000499133.1:p.Gly35_Gly36insGlyGlyGly
ENST00000331327.4:c.96_104dup ENSP00000332706.3:p.Gly35_Gly36insGlyGlyGly
ENST00000505703.1:n.561_569dup
NM_005859.4:c.96_104dup NP_005850.1:p.Gly35_Gly36insGlyGlyGly
NM_005859.5:c.96_104dup MANE Select NP_005850.1:p.Gly35_Gly36insGlyGlyGly
Search 100 bp 5'
Search 100 bp 3'