Canonical Allele Identifier: CA644561056
Gene: HPRT1 HGNC NCBI

Linked Data

dbSNP Id: rs1276483748
gnomAD v2: X-133632355-GTCTTC-G
gnomAD v3: X-134498325-GTCTTC-G
gnomAD v4: X-134498325-GTCTTC-G
MyVariant Identifiers: chrX:g.133632356_133632360del (hg19) chrX:g.134498326_134498330del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134498330_134498334del , CM000685.2:g.134498330_134498334del GRCh38
NC_000023.10:g.133632360_133632364del , CM000685.1:g.133632360_133632364del GRCh37
NC_000023.9:g.133460026_133460030del NCBI36
NG_012329.1:g.43186_43190del
NG_012329.2:g.43186_43190del

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.486-60_486-56del MANE Select ENSP00000298556.7:n.486-60_486-56del
ENST00000298556.7:c.486-60_486-56del ENSP00000298556.7:n.486-60_486-56del
ENST00000462974.5:n.644-60_644-56del
ENST00000475720.1:n.444-60_444-56del
NM_000194.2:c.486-60_486-56del NP_000185.1:n.486-60_486-56del
XM_011531328.1:c.504-60_504-56del XP_011529630.1:n.504-60_504-56del
NM_000194.3:c.486-60_486-56del MANE Select NP_000185.1:n.486-60_486-56del
Search 100 bp 5'
Search 100 bp 3'