Canonical Allele Identifier: CA2459743309

Gene: HPRT1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134493342_134493343delinsGC , CM000685.2:g.134493342_134493343delinsGC	GRCh38
NC_000023.10:g.133627372_133627373delinsGC , CM000685.1:g.133627372_133627373delinsGC	GRCh37
NC_000023.9:g.133455038_133455039delinsGC	NCBI36
NG_012329.1:g.38198_38199delinsGC
NG_012329.2:g.38198_38199delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298556.8:c.403-166_403-165delinsGC MANE Select	ENSP00000298556.7:n.403-166_403-165delinsGC
ENST00000298556.7:c.403-166_403-165delinsGC	ENSP00000298556.7:n.403-166_403-165delinsGC
ENST00000462974.5:n.561-166_561-165delinsGC
ENST00000475720.1:n.361-166_361-165delinsGC
NM_000194.2:c.403-166_403-165delinsGC	NP_000185.1:n.403-166_403-165delinsGC
XM_011531328.1:c.421-166_421-165delinsGC	XP_011529630.1:n.421-166_421-165delinsGC
NM_000194.3:c.403-166_403-165delinsGC MANE Select	NP_000185.1:n.403-166_403-165delinsGC