Canonical Allele Identifier: CA2694742250
Gene: HPRT1 HGNC NCBI

Linked Data

gnomAD v4: X-134475135-TTAATG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475138_134475142del , CM000685.2:g.134475138_134475142del GRCh38
NC_000023.10:g.133609168_133609172del , CM000685.1:g.133609168_133609172del GRCh37
NC_000023.9:g.133436834_133436838del NCBI36
NG_012329.1:g.19994_19998del
NG_012329.2:g.19994_19998del

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.135-43_135-39del MANE Select ENSP00000298556.7:n.135-43_135-39del
ENST00000298556.7:c.135-43_135-39del ENSP00000298556.7:n.135-43_135-39del
ENST00000462974.5:n.293-43_293-39del
ENST00000475720.1:n.93-43_93-39del
NM_000194.2:c.135-43_135-39del NP_000185.1:n.135-43_135-39del
XM_011531328.1:c.153-43_153-39del XP_011529630.1:n.153-43_153-39del
NM_000194.3:c.135-43_135-39del MANE Select NP_000185.1:n.135-43_135-39del
Search 100 bp 5'
Search 100 bp 3'