Canonical Allele Identifier: CA37612745
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs953656104
gnomAD v2: 1-221009939-CTTA-C
gnomAD v3: 1-220836597-CTTA-C
gnomAD v4: 1-220836597-CTTA-C
MyVariant Identifiers: chr1:g.221009940_221009942del (hg19) chr1:g.220836598_220836600del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220836602_220836604del , CM000663.2:g.220836602_220836604del GRCh38
NC_000001.10:g.221009944_221009946del , CM000663.1:g.221009944_221009946del GRCh37
NC_000001.9:g.219076567_219076569del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.842+31328_842+31330del ENSP00000499157.1:n.842+31328_842+31330del
NR_046901.1:n.293-3408_293-3406del
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