ClinGen Allele Registry
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Canonical Allele Identifier:
CA102637960
Gene:
Linked Data
dbSNP Id:
rs987507819
gnomAD v3:
4-99474190-AT-A
gnomAD v4:
4-99474190-AT-A
MyVariant Identifiers:
chr4:g.100395348del (hg19)
chr4:g.99474191del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99474197del , CM000666.2:g.99474197del
GRCh38
NC_000004.11:g.100395354del , CM000666.1:g.100395354del
GRCh37
NC_000004.10:g.100614377del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000506494.1:n.243-2329del
Search 100 bp 5'
Search 100 bp 3'