Canonical Allele Identifier: CA2823682801
Gene: HPRT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475062_134475072del , CM000685.2:g.134475062_134475072del GRCh38
NC_000023.10:g.133609092_133609102del , CM000685.1:g.133609092_133609102del GRCh37
NC_000023.9:g.133436758_133436768del NCBI36
NG_012329.1:g.19918_19928del
NG_012329.2:g.19918_19928del

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.135-119_135-109del MANE Select ENSP00000298556.7:n.135-119_135-109del
ENST00000298556.7:c.135-119_135-109del ENSP00000298556.7:n.135-119_135-109del
ENST00000462974.5:n.293-119_293-109del
ENST00000475720.1:n.93-119_93-109del
NM_000194.2:c.135-119_135-109del NP_000185.1:n.135-119_135-109del
XM_011531328.1:c.153-119_153-109del XP_011529630.1:n.153-119_153-109del
NM_000194.3:c.135-119_135-109del MANE Select NP_000185.1:n.135-119_135-109del