Canonical Allele Identifier: CA2738990979

Gene: HPRT1

Linked Data

• dbSNP Id: rs2124291507

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134475364_134475365insAATGACCAGTCAACAGGGGACATAAAA , CM000685.2:g.134475364_134475365insAATGACCAGTCAACAGGGGACATAAAA	GRCh38
NC_000023.10:g.133609394_133609395insAATGACCAGTCAACAGGGGACATAAAA , CM000685.1:g.133609394_133609395insAATGACCAGTCAACAGGGGACATAAAA	GRCh37
NC_000023.9:g.133437060_133437061insAATGACCAGTCAACAGGGGACATAAAA	NCBI36
NG_012329.1:g.20220_20221insAATGACCAGTCAACAGGGGACATAAAA
NG_012329.2:g.20220_20221insAATGACCAGTCAACAGGGGACATAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000298556.8:c.318_318+1insAATGACCAGTCAACAGGGGACATAAAA MANE Select	ENSP00000298556.7:n.318_318+1insAATGACCAGTCAACAGGGGACATAAAA
ENST00000298556.7:c.318_318+1insAATGACCAGTCAACAGGGGACATAAAA	ENSP00000298556.7:n.318_318+1insAATGACCAGTCAACAGGGGACATAAAA
ENST00000462974.5:n.476_476+1insAATGACCAGTCAACAGGGGACATAAAA
ENST00000475720.1:n.276_276+1insAATGACCAGTCAACAGGGGACATAAAA
NM_000194.2:c.318_318+1insAATGACCAGTCAACAGGGGACATAAAA	NP_000185.1:n.318_318+1insAATGACCAGTCAACAGGGGACATAAAA
XM_011531328.1:c.336_336+1insAATGACCAGTCAACAGGGGACATAAAA	XP_011529630.1:n.336_336+1insAATGACCAGTCAACAGGGGACATAAAA
NM_000194.3:c.318_318+1insAATGACCAGTCAACAGGGGACATAAAA MANE Select	NP_000185.1:n.318_318+1insAATGACCAGTCAACAGGGGACATAAAA