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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:
CA10630907
Gene: WRN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
362785
ClinVar RCV Id:
RCV000368153
dbSNP Id:
rs886062882
MyVariant Identifiers:
chr8:g.30891282dupG (hg19)
chr8:g.31033766dupG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.31033766dup , CM000670.2:g.31033766dup
GRCh38
NC_000008.10:g.30891282dup , CM000670.1:g.30891282dup
GRCh37
NC_000008.9:g.31010824dup
NCBI36
NG_008870.1:g.5505dup , LRG_524:g.5505dup
Transcript Alleles
HGVS
Amino-acid Change
NM_000553.4:c.-284dup , LRG_524t1:c.-284dup
NP_000544.2:n.-284dup
NM_000553.5:c.-284dup
NP_000544.2:n.-284dup
XM_011544639.3:c.-284dup
XP_011542941.1:n.-284dup
XR_949470.3:n.18dup
XR_949471.3:n.18dup
XR_949472.3:n.18dup
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