Canonical Allele Identifier: CA2694741193

Gene: HPRT1

Linked Data

• gnomAD v4: X-134493491-GTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134493496_134493498del , CM000685.2:g.134493496_134493498del	GRCh38
NC_000023.10:g.133627526_133627528del , CM000685.1:g.133627526_133627528del	GRCh37
NC_000023.9:g.133455192_133455194del	NCBI36
NG_012329.1:g.38352_38354del
NG_012329.2:g.38352_38354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298556.8:c.403-12_403-10del MANE Select	ENSP00000298556.7:n.403-12_403-10del
ENST00000298556.7:c.403-12_403-10del	ENSP00000298556.7:n.403-12_403-10del
ENST00000462974.5:n.561-12_561-10del
ENST00000475720.1:n.361-12_361-10del
NM_000194.2:c.403-12_403-10del	NP_000185.1:n.403-12_403-10del
XM_011531328.1:c.421-12_421-10del	XP_011529630.1:n.421-12_421-10del
NM_000194.3:c.403-12_403-10del MANE Select	NP_000185.1:n.403-12_403-10del