Canonical Allele Identifier: CA2579706179
Gene: HPRT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475210del , CM000685.2:g.134475210del GRCh38
NC_000023.10:g.133609240del , CM000685.1:g.133609240del GRCh37
NC_000023.9:g.133436906del NCBI36
NG_012329.1:g.20066del
NG_012329.2:g.20066del

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.164del MANE Select ENSP00000298556.7:p.Lys55ArgfsTer9
ENST00000298556.7:c.164del ENSP00000298556.7:p.Lys55ArgfsTer9
ENST00000462974.5:n.322del
ENST00000475720.1:n.122del
NM_000194.2:c.164del NP_000185.1:p.Lys55ArgfsTer9
XM_011531328.1:c.182del XP_011529630.1:p.Lys61ArgfsTer9
NM_000194.3:c.164del MANE Select NP_000185.1:p.Lys55ArgfsTer9
Search 100 bp 5'
Search 100 bp 3'