Canonical Allele Identifier: CA1586595762
Gene: PURA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114904_140114906delinsCGT , CM000667.2:g.140114904_140114906delinsCGT GRCh38
NC_000005.9:g.139494489_139494491delinsCGT , CM000667.1:g.139494489_139494491delinsCGT GRCh37
NC_000005.8:g.139474673_139474675delinsCGT NCBI36
NG_041813.1:g.5782_5784delinsCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.723_725delinsCGT MANE Select ENSP00000332706.3:p.Gly241=
ENST00000651386.1:c.723_725delinsCGT ENSP00000499133.1:p.Gly241=
ENST00000331327.4:c.723_725delinsCGT ENSP00000332706.3:p.Gly241=
NM_005859.4:c.723_725delinsCGT NP_005850.1:p.Gly241=
NM_005859.5:c.723_725delinsCGT MANE Select NP_005850.1:p.Gly241=
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