Canonical Allele Identifier: CA1586595371
Gene: PURA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114799_140114806delinsCGACGACT , CM000667.2:g.140114799_140114806delinsCGACGACT GRCh38
NC_000005.9:g.139494384_139494391delinsCGACGACT , CM000667.1:g.139494384_139494391delinsCGACGACT GRCh37
NC_000005.8:g.139474568_139474575delinsCGACGACT NCBI36
NG_041813.1:g.5677_5684delinsCGACGACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.618_625delinsCGACGACT MANE Select ENSP00000332706.3:p.Ile206=
ENST00000651386.1:c.618_625delinsCGACGACT ENSP00000499133.1:p.Ile206=
ENST00000331327.4:c.618_625delinsCGACGACT ENSP00000332706.3:p.Ile206=
NM_005859.4:c.618_625delinsCGACGACT NP_005850.1:p.Ile206=
NM_005859.5:c.618_625delinsCGACGACT MANE Select NP_005850.1:p.Ile206=
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