Canonical Allele Identifier: CA2695236045
Gene: HPRT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134493511dup , CM000685.2:g.134493511dup GRCh38
NC_000023.10:g.133627541dup , CM000685.1:g.133627541dup GRCh37
NC_000023.9:g.133455207dup NCBI36
NG_012329.1:g.38367dup
NG_012329.2:g.38367dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.406dup MANE Select ENSP00000298556.7:p.Ile136AsnfsTer3
ENST00000298556.7:c.406dup ENSP00000298556.7:p.Ile136AsnfsTer3
ENST00000462974.5:n.564dup
ENST00000475720.1:n.364dup
NM_000194.2:c.406dup NP_000185.1:p.Ile136AsnfsTer3
XM_011531328.1:c.424dup XP_011529630.1:p.Ile142AsnfsTer3
NM_000194.3:c.406dup MANE Select NP_000185.1:p.Ile136AsnfsTer3
Search 100 bp 5'
Search 100 bp 3'