Canonical Allele Identifier: CA10521427

Gene: HPRT1

Linked Data

• dbSNP Id: rs747017210
• ExAC: X:133632388 GTATGT / G
• gnomAD v2: X-133632388-GTATGT-G
• gnomAD v3: X-134498358-GTATGT-G
• gnomAD v4: X-134498358-GTATGT-G
• MyVariant Identifiers: chrX:g.133632389_133632393del (hg19) ; chrX:g.134498359_134498363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134498362_134498366del , CM000685.2:g.134498362_134498366del	GRCh38
NC_000023.10:g.133632392_133632396del , CM000685.1:g.133632392_133632396del	GRCh37
NC_000023.9:g.133460058_133460062del	NCBI36
NG_012329.1:g.43218_43222del
NG_012329.2:g.43218_43222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298556.8:c.486-28_486-24del MANE Select	ENSP00000298556.7:n.486-28_486-24del
ENST00000298556.7:c.486-28_486-24del	ENSP00000298556.7:n.486-28_486-24del
ENST00000462974.5:n.644-28_644-24del
ENST00000475720.1:n.444-28_444-24del
NM_000194.2:c.486-28_486-24del	NP_000185.1:n.486-28_486-24del
XM_011531328.1:c.504-28_504-24del	XP_011529630.1:n.504-28_504-24del
NM_000194.3:c.486-28_486-24del MANE Select	NP_000185.1:n.486-28_486-24del