Canonical Allele Identifier: CA2580101548
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10053
ClinVar RCV Id: RCV000010753
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475206_134475245del , CM000685.2:g.134475206_134475245del GRCh38
NC_000023.10:g.133609236_133609275del , CM000685.1:g.133609236_133609275del GRCh37
NC_000023.9:g.133436902_133436941del NCBI36
NG_012329.1:g.20062_20101del
NG_012329.2:g.20062_20101del

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.160_199del MANE Select ENSP00000298556.7:p.Met54CysfsTer19
ENST00000298556.7:c.160_199del ENSP00000298556.7:p.Met54CysfsTer19
ENST00000462974.5:n.318_357del
ENST00000475720.1:n.118_157del
NM_000194.2:c.160_199del NP_000185.1:p.Met54CysfsTer19
XM_011531328.1:c.178_217del XP_011529630.1:p.Met60CysfsTer19
NM_000194.3:c.160_199del MANE Select NP_000185.1:p.Met54CysfsTer19
Search 100 bp 5'
Search 100 bp 3'