Canonical Allele Identifier: CA731824128
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1194755965
gnomAD v3: 1-220837142-CATATTG-C
gnomAD v4: 1-220837142-CATATTG-C
MyVariant Identifiers: chr1:g.221010485_221010490del (hg19) chr1:g.220837143_220837148del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220837149_220837154del , CM000663.2:g.220837149_220837154del GRCh38
NC_000001.10:g.221010491_221010496del , CM000663.1:g.221010491_221010496del GRCh37
NC_000001.9:g.219077114_219077119del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.842+31875_842+31880del ENSP00000499157.1:n.842+31875_842+31880del
NR_046901.1:n.293-3956_293-3951del
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