Canonical Allele Identifier: CA2694740201

Gene: HPRT1

Linked Data

• gnomAD v4: X-134475373-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134475376del , CM000685.2:g.134475376del	GRCh38
NC_000023.10:g.133609406del , CM000685.1:g.133609406del	GRCh37
NC_000023.9:g.133437072del	NCBI36
NG_012329.1:g.20232del
NG_012329.2:g.20232del

Transcript Alleles

HGVS	Amino-acid change
ENST00000298556.8:c.318+12del MANE Select	ENSP00000298556.7:n.318+12del
ENST00000298556.7:c.318+12del	ENSP00000298556.7:n.318+12del
ENST00000462974.5:n.476+12del
ENST00000475720.1:n.276+12del
NM_000194.2:c.318+12del	NP_000185.1:n.318+12del
XM_011531328.1:c.336+12del	XP_011529630.1:n.336+12del
NM_000194.3:c.318+12del MANE Select	NP_000185.1:n.318+12del