Canonical Allele Identifier: CA2579706184
Gene: HPRT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475364_134475367del , CM000685.2:g.134475364_134475367del GRCh38
NC_000023.10:g.133609394_133609397del , CM000685.1:g.133609394_133609397del GRCh37
NC_000023.9:g.133437060_133437063del NCBI36
NG_012329.1:g.20220_20223del
NG_012329.2:g.20220_20223del

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.318_318+3del
ENST00000298556.7:c.318_318+3del
ENST00000462974.5:n.476_476+3del
ENST00000475720.1:n.276_276+3del
NM_000194.2:c.318_318+3del
XM_011531328.1:c.336_336+3del
NM_000194.3:c.318_318+3del