Canonical Allele Identifier: CA529064265
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1558103574
gnomAD v2: 1-221010625-AC-A
gnomAD v3: 1-220837283-AC-A
gnomAD v4: 1-220837283-AC-A
MyVariant Identifiers: chr1:g.221010626del (hg19) chr1:g.220837284del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220837284del , CM000663.2:g.220837284del GRCh38
NC_000001.10:g.221010626del , CM000663.1:g.221010626del GRCh37
NC_000001.9:g.219077249del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.842+32010del ENSP00000499157.1:n.842+32010del
NR_046901.1:n.293-4092del
Search 100 bp 5'
Search 100 bp 3'