×
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:
CA2664399830
Gene: VHL
HGNC
NCBI
Linked Data
gnomAD v4:
3-10141755-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10141756del , CM000665.2:g.10141756del
GRCh38
NC_000003.11:g.10183440del , CM000665.1:g.10183440del
GRCh37
NC_000003.10:g.10158440del
NCBI36
NG_008212.3:g.5122del , LRG_322:g.5122del
Transcript Alleles
HGVS
Amino-acid change
ENST00000256474.2:c.-92del
ENSP00000256474.2:n.-92del
NM_000551.3:c.-92del , LRG_322t1:c.-92del
NP_000542.1:n.-92del
NM_198156.2:c.-92del
NP_937799.1:n.-92del
NM_001354723.1:c.-92del
NP_001341652.1:n.-92del
Search 100 bp 5'
Search 100 bp 3'