ClinGen Allele Registry
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Canonical Allele Identifier:
CA185773353
Gene: CASC11
HGNC
NCBI
Linked Data
dbSNP Id:
rs545986240
gnomAD v2:
8-128719873-C-CT
gnomAD v3:
8-127707628-C-CT
gnomAD v4:
8-127707628-C-CT
MyVariant Identifiers:
chr8:g.128719873_128719874insT (hg19)
chr8:g.127707628_127707629insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127707629dup , CM000670.2:g.127707629dup
GRCh38
NC_000008.10:g.128719874dup , CM000670.1:g.128719874dup
GRCh37
NC_000008.9:g.128789056dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_117102.1:n.366-4386dup
Search 100 bp 5'
Search 100 bp 3'