Canonical Allele Identifier: CA2579706272
Gene: HPRT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134493564del , CM000685.2:g.134493564del GRCh38
NC_000023.10:g.133627594del , CM000685.1:g.133627594del GRCh37
NC_000023.9:g.133455260del NCBI36
NG_012329.1:g.38420del
NG_012329.2:g.38420del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.459del MANE Select ENSP00000298556.7:p.Tyr153Ter
ENST00000298556.7:c.459del ENSP00000298556.7:p.Tyr153Ter
ENST00000462974.5:n.617del
ENST00000475720.1:n.417del
NM_000194.2:c.459del NP_000185.1:p.Tyr153Ter
XM_011531328.1:c.477del XP_011529630.1:p.Tyr159Ter
NM_000194.3:c.459del MANE Select NP_000185.1:p.Tyr153Ter
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