Canonical Allele Identifier: CA1586594887
Gene: PURA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114685_140114686delinsGC , CM000667.2:g.140114685_140114686delinsGC GRCh38
NC_000005.9:g.139494270_139494271delinsGC , CM000667.1:g.139494270_139494271delinsGC GRCh37
NC_000005.8:g.139474454_139474455delinsGC NCBI36
NG_041813.1:g.5563_5564delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.504_505delinsGC MANE Select ENSP00000332706.3:p.Leu168=
ENST00000651386.1:c.504_505delinsGC ENSP00000499133.1:p.Leu168=
ENST00000331327.4:c.504_505delinsGC ENSP00000332706.3:p.Leu168=
NM_005859.4:c.504_505delinsGC NP_005850.1:p.Leu168=
NM_005859.5:c.504_505delinsGC MANE Select NP_005850.1:p.Leu168=
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