×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2499216388
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
997767
ClinVar RCV Id:
RCV001293324
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10148561_10152736del , CM000665.2:g.10148561_10152736del
GRCh38
NC_000003.11:g.10190245_10194420del , CM000665.1:g.10190245_10194420del
GRCh37
NC_000003.10:g.10165245_10169420del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000696153.1:c.464-143_*2771del
ENST00000256474.3:c.464-1226_*2771del
NM_000551.4:c.464-1226_*2771del
NM_001354723.2:c.*18-1226_*2967del
NM_198156.3:c.341-1226_*2771del
Search 100 bp 5'
Search 100 bp 3'