Canonical Allele Identifier: CA2459737384
Gene: HPRT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475047_134475048delinsAT , CM000685.2:g.134475047_134475048delinsAT GRCh38
NC_000023.10:g.133609077_133609078delinsAT , CM000685.1:g.133609077_133609078delinsAT GRCh37
NC_000023.9:g.133436743_133436744delinsAT NCBI36
NG_012329.1:g.19903_19904delinsAT
NG_012329.2:g.19903_19904delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.135-134_135-133delinsAT MANE Select ENSP00000298556.7:n.135-134_135-133delinsAT
ENST00000298556.7:c.135-134_135-133delinsAT ENSP00000298556.7:n.135-134_135-133delinsAT
ENST00000462974.5:n.293-134_293-133delinsAT
ENST00000475720.1:n.93-134_93-133delinsAT
NM_000194.2:c.135-134_135-133delinsAT NP_000185.1:n.135-134_135-133delinsAT
XM_011531328.1:c.153-134_153-133delinsAT XP_011529630.1:n.153-134_153-133delinsAT
NM_000194.3:c.135-134_135-133delinsAT MANE Select NP_000185.1:n.135-134_135-133delinsAT