Canonical Allele Identifier: CA2740092276
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2942150
ClinVar RCV Id: RCV003805364
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475246_134475247dup , CM000685.2:g.134475246_134475247dup GRCh38
NC_000023.10:g.133609276_133609277dup , CM000685.1:g.133609276_133609277dup GRCh37
NC_000023.9:g.133436942_133436943dup NCBI36
NG_012329.1:g.20102_20103dup
NG_012329.2:g.20102_20103dup

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.200_201dup MANE Select ENSP00000298556.7:p.Leu68CysfsTer19
ENST00000298556.7:c.200_201dup ENSP00000298556.7:p.Leu68CysfsTer19
ENST00000462974.5:n.358_359dup
ENST00000475720.1:n.158_159dup
NM_000194.2:c.200_201dup NP_000185.1:p.Leu68CysfsTer19
XM_011531328.1:c.218_219dup XP_011529630.1:p.Leu74CysfsTer19
NM_000194.3:c.200_201dup MANE Select NP_000185.1:p.Leu68CysfsTer19
Search 100 bp 5'
Search 100 bp 3'