Canonical Allele Identifier: CA10614434
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 342499
ClinVar RCV Id: RCV000271864
dbSNP Id: rs886057755
gnomAD v2: 3-10194966-A-AAAAAAAC
gnomAD v3: 3-10153282-A-AAAAAAAC
gnomAD v4: 3-10153282-A-AAAAAAAC
MyVariant Identifiers: chr3:g.10194979_10194985dupACAAAAA (hg19) chr3:g.10194966_10194967insAAAAAAC (hg19) chr3:g.10153295_10153301dupACAAAAA (hg38) chr3:g.10153282_10153283insAAAAAAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153295_10153301dup , CM000665.2:g.10153295_10153301dup GRCh38
NC_000003.11:g.10194979_10194985dup , CM000665.1:g.10194979_10194985dup GRCh37
NC_000003.10:g.10169979_10169985dup NCBI36
NG_008212.3:g.16661_16667dup , LRG_322:g.16661_16667dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*3330_*3336dup ENSP00000512444.1:n.*3330_*3336dup
ENST00000256474.3:c.*3330_*3336dup MANE Select ENSP00000256474.3:n.*3330_*3336dup
NM_000551.3:c.*3330_*3336dup , LRG_322t1:c.*3330_*3336dup NP_000542.1:n.*3330_*3336dup
NM_198156.2:c.*3330_*3336dup NP_937799.1:n.*3330_*3336dup
NM_001354723.1:c.*3526_*3532dup NP_001341652.1:n.*3526_*3532dup
NM_000551.4:c.*3330_*3336dup MANE Select NP_000542.1:n.*3330_*3336dup
NM_001354723.2:c.*3526_*3532dup NP_001341652.1:n.*3526_*3532dup
NM_198156.3:c.*3330_*3336dup NP_937799.1:n.*3330_*3336dup
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