Canonical Allele Identifier: CA1139659105
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 985946
ClinVar RCV Id: RCV001267121
dbSNP Id: rs1763053171
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114862_140114863insTGAGGAC , CM000667.2:g.140114862_140114863insTGAGGAC GRCh38
NC_000005.9:g.139494447_139494448insTGAGGAC , CM000667.1:g.139494447_139494448insTGAGGAC GRCh37
NC_000005.8:g.139474631_139474632insTGAGGAC NCBI36
NG_041813.1:g.5740_5741insTGAGGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.681_682insTGAGGAC MANE Select ENSP00000332706.3:p.Asn228Ter
ENST00000651386.1:c.681_682insTGAGGAC ENSP00000499133.1:p.Asn228Ter
ENST00000331327.4:c.681_682insTGAGGAC ENSP00000332706.3:p.Asn228Ter
NM_005859.4:c.681_682insTGAGGAC NP_005850.1:p.Asn228Ter
NM_005859.5:c.681_682insTGAGGAC MANE Select NP_005850.1:p.Asn228Ter
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