Canonical Allele Identifier: CA1586594898
Gene: PURA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114687_140114694delinsGCATCCGC , CM000667.2:g.140114687_140114694delinsGCATCCGC GRCh38
NC_000005.9:g.139494272_139494279delinsGCATCCGC , CM000667.1:g.139494272_139494279delinsGCATCCGC GRCh37
NC_000005.8:g.139474456_139474463delinsGCATCCGC NCBI36
NG_041813.1:g.5565_5572delinsGCATCCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.506_513delinsGCATCCGC MANE Select ENSP00000332706.3:p.Arg169=
ENST00000651386.1:c.506_513delinsGCATCCGC ENSP00000499133.1:p.Arg169=
ENST00000331327.4:c.506_513delinsGCATCCGC ENSP00000332706.3:p.Arg169=
NM_005859.4:c.506_513delinsGCATCCGC NP_005850.1:p.Arg169=
NM_005859.5:c.506_513delinsGCATCCGC MANE Select NP_005850.1:p.Arg169=
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Search 100 bp 3'