ClinGen Allele Registry
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Canonical Allele Identifier:
CA1222592087
Gene: HLX-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1674355633
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.220878498_220878509del , CM000663.2:g.220878498_220878509del
GRCh38
NC_000001.10:g.221051840_221051851del , CM000663.1:g.221051840_221051851del
GRCh37
NC_000001.9:g.219118463_219118474del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000651706.1:c.843-2696_843-2685del
ENSP00000499157.1:n.843-2696_843-2685del
NR_046901.1:n.292+1346_292+1357del
XM_011510307.1:c.556_567del
XP_011508609.1:p.Thr186_Asn189del
Search 100 bp 5'
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