Canonical Allele Identifier: CA1012539599
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1673647261
gnomAD v3: 1-220837164-G-GAATA
gnomAD v4: 1-220837164-G-GAATA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220837177_220837180dup , CM000663.2:g.220837177_220837180dup GRCh38
NC_000001.10:g.221010519_221010522dup , CM000663.1:g.221010519_221010522dup GRCh37
NC_000001.9:g.219077142_219077145dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.842+31903_842+31906dup ENSP00000499157.1:n.842+31903_842+31906dup
NR_046901.1:n.293-3976_293-3973dup
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