Canonical Allele Identifier: CA563504649
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs1000893311
gnomAD v2: 5-139493713-G-GAGGCGGCGGGCGGAGCGGC
gnomAD v3: 5-140114128-G-GAGGCGGCGGGCGGAGCGGC
gnomAD v4: 5-140114128-G-GAGGCGGCGGGCGGAGCGGC
MyVariant Identifiers: chr5:g.139493713_139493714insAGGCGGCGGGCGGAGCGGC (hg19) chr5:g.140114128_140114129insAGGCGGCGGGCGGAGCGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114138_140114156dup , CM000667.2:g.140114138_140114156dup GRCh38
NC_000005.9:g.139493723_139493741dup , CM000667.1:g.139493723_139493741dup GRCh37
NC_000005.8:g.139473907_139473925dup NCBI36
NG_041813.1:g.5016_5034dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.-44_-26dup MANE Select ENSP00000332706.3:n.-44_-26dup
ENST00000505703.2:c.-44_-26dup ENSP00000498560.1:n.-44_-26dup
ENST00000651386.1:c.-44_-26dup ENSP00000499133.1:n.-44_-26dup
ENST00000331327.4:c.-44_-26dup ENSP00000332706.3:n.-44_-26dup
ENST00000502351.1:n.380_398dup
ENST00000505703.1:n.422_440dup
NM_005859.4:c.-44_-26dup NP_005850.1:n.-44_-26dup
NM_005859.5:c.-44_-26dup MANE Select NP_005850.1:n.-44_-26dup
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