ClinGen Allele Registry
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Canonical Allele Identifier:
CA627480387
Gene: CASC17
HGNC
NCBI
Linked Data
dbSNP Id:
rs1478351010
gnomAD v2:
17-69108821-C-CT
gnomAD v3:
17-71112680-C-CT
gnomAD v4:
17-71112680-C-CT
MyVariant Identifiers:
chr17:g.69108821_69108822insT (hg19)
chr17:g.71112680_71112681insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.71112681dup , CM000679.2:g.71112681dup
GRCh38
NC_000017.10:g.69108822dup , CM000679.1:g.69108822dup
GRCh37
NC_000017.9:g.66620417dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_104152.1:n.218-13063dup
Search 100 bp 5'
Search 100 bp 3'