Canonical Allele Identifier: CA2579706270
Gene: HPRT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134493517del , CM000685.2:g.134493517del GRCh38
NC_000023.10:g.133627547del , CM000685.1:g.133627547del GRCh37
NC_000023.9:g.133455213del NCBI36
NG_012329.1:g.38373del
NG_012329.2:g.38373del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.412del MANE Select ENSP00000298556.7:p.Asp138ThrfsTer28
ENST00000298556.7:c.412del ENSP00000298556.7:p.Asp138ThrfsTer28
ENST00000462974.5:n.570del
ENST00000475720.1:n.370del
NM_000194.2:c.412del NP_000185.1:p.Asp138ThrfsTer28
XM_011531328.1:c.430del XP_011529630.1:p.Asp144ThrfsTer28
NM_000194.3:c.412del MANE Select NP_000185.1:p.Asp138ThrfsTer28
Search 100 bp 5'
Search 100 bp 3'