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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:
CA2740090892
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2954173
ClinVar RCV Id:
RCV003813396
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10141762_10141816del , CM000665.2:g.10141762_10141816del
GRCh38
NC_000003.11:g.10183446_10183500del , CM000665.1:g.10183446_10183500del
GRCh37
NC_000003.10:g.10158446_10158500del
NCBI36
NG_008212.3:g.5128_5182del , LRG_322:g.5128_5182del
Transcript Alleles
HGVS
Amino-acid change
ENST00000256474.2:c.-86_-32del
ENSP00000256474.2:n.-86_-32del
NM_000551.3:c.-86_-32del , LRG_322t1:c.-86_-32del
NP_000542.1:n.-86_-32del
NM_198156.2:c.-86_-32del
NP_937799.1:n.-86_-32del
NM_001354723.1:c.-86_-32del
NP_001341652.1:n.-86_-32del
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