Canonical Allele Identifier: CA10616781
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 342467
ClinVar RCV Id: RCV000344470
dbSNP Id: rs564788050
gnomAD v2: 3-10194053-C-CA
gnomAD v3: 3-10152369-C-CA
gnomAD v4: 3-10152369-C-CA
MyVariant Identifiers: chr3:g.10194068dupA (hg19) chr3:g.10194056_10194057insA (hg19) chr3:g.10194053_10194054insA (hg19) chr3:g.10152384dupA (hg38) chr3:g.10152372_10152373insA (hg38) chr3:g.10152369_10152370insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152384dup , CM000665.2:g.10152384dup GRCh38
NC_000003.11:g.10194068dup , CM000665.1:g.10194068dup GRCh37
NC_000003.10:g.10169068dup NCBI36
NG_008212.3:g.15750dup , LRG_322:g.15750dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2419dup ENSP00000512444.1:n.*2419dup
ENST00000256474.3:c.*2419dup MANE Select ENSP00000256474.3:n.*2419dup
NM_000551.3:c.*2419dup , LRG_322t1:c.*2419dup NP_000542.1:n.*2419dup
NM_198156.2:c.*2419dup NP_937799.1:n.*2419dup
NM_001354723.1:c.*2615dup NP_001341652.1:n.*2615dup
NM_000551.4:c.*2419dup MANE Select NP_000542.1:n.*2419dup
NM_001354723.2:c.*2615dup NP_001341652.1:n.*2615dup
NM_198156.3:c.*2419dup NP_937799.1:n.*2419dup
Search 100 bp 5'
Search 100 bp 3'