Canonical Allele Identifier: CA2695236463
Gene: HPRT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475246_134475247del , CM000685.2:g.134475246_134475247del GRCh38
NC_000023.10:g.133609276_133609277del , CM000685.1:g.133609276_133609277del GRCh37
NC_000023.9:g.133436942_133436943del NCBI36
NG_012329.1:g.20102_20103del
NG_012329.2:g.20102_20103del

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.200_201del MANE Select ENSP00000298556.7:p.Val67AlafsTer6
ENST00000298556.7:c.200_201del ENSP00000298556.7:p.Val67AlafsTer6
ENST00000462974.5:n.358_359del
ENST00000475720.1:n.158_159del
NM_000194.2:c.200_201del NP_000185.1:p.Val67AlafsTer6
XM_011531328.1:c.218_219del XP_011529630.1:p.Val73AlafsTer6
NM_000194.3:c.200_201del MANE Select NP_000185.1:p.Val67AlafsTer6
Search 100 bp 5'
Search 100 bp 3'