Canonical Allele Identifier: CA2579706198
Gene: HPRT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134486400del , CM000685.2:g.134486400del GRCh38
NC_000023.10:g.133620430del , CM000685.1:g.133620430del GRCh37
NC_000023.9:g.133448096del NCBI36
NG_012329.1:g.31256del
NG_012329.2:g.31256del

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.319-65del MANE Select ENSP00000298556.7:n.319-65del
ENST00000298556.7:c.319-65del ENSP00000298556.7:n.319-65del
ENST00000462974.5:n.477-65del
ENST00000475720.1:n.277-65del
NM_000194.2:c.319-65del NP_000185.1:n.319-65del
XM_011531328.1:c.337-65del XP_011529630.1:n.337-65del
NM_000194.3:c.319-65del MANE Select NP_000185.1:n.319-65del