Canonical Allele Identifier: CA2823682808
Gene: HPRT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475070_134475071insTTTTT , CM000685.2:g.134475070_134475071insTTTTT GRCh38
NC_000023.10:g.133609100_133609101insTTTTT , CM000685.1:g.133609100_133609101insTTTTT GRCh37
NC_000023.9:g.133436766_133436767insTTTTT NCBI36
NG_012329.1:g.19926_19927insTTTTT
NG_012329.2:g.19926_19927insTTTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.135-111_135-110insTTTTT MANE Select ENSP00000298556.7:n.135-111_135-110insTTTTT
ENST00000298556.7:c.135-111_135-110insTTTTT ENSP00000298556.7:n.135-111_135-110insTTTTT
ENST00000462974.5:n.293-111_293-110insTTTTT
ENST00000475720.1:n.93-111_93-110insTTTTT
NM_000194.2:c.135-111_135-110insTTTTT NP_000185.1:n.135-111_135-110insTTTTT
XM_011531328.1:c.153-111_153-110insTTTTT XP_011529630.1:n.153-111_153-110insTTTTT
NM_000194.3:c.135-111_135-110insTTTTT MANE Select NP_000185.1:n.135-111_135-110insTTTTT
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