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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA627484938
Gene: CASC17
HGNC
NCBI
Linked Data
dbSNP Id:
rs1331036476
gnomAD v2:
17-69125640-CTAAA-C
gnomAD v3:
17-71129499-CTAAA-C
gnomAD v4:
17-71129499-CTAAA-C
MyVariant Identifiers:
chr17:g.69125641_69125644del (hg19)
chr17:g.71129500_71129503del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.71129503_71129506del , CM000679.2:g.71129503_71129506del
GRCh38
NC_000017.10:g.69125644_69125647del , CM000679.1:g.69125644_69125647del
GRCh37
NC_000017.9:g.66637239_66637242del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_104152.1:n.217+2887_217+2890del
Search 100 bp 5'
Search 100 bp 3'