Canonical Allele Identifier: CA70041781

Gene: VHL

Linked Data

• dbSNP Id: rs779124495
• MyVariant Identifiers: chr3:g.10183334_10183335insACGGCCT (hg19) ; chr3:g.10141650_10141651insACGGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141655_10141661dup , CM000665.2:g.10141655_10141661dup	GRCh38
NC_000003.11:g.10183339_10183345dup , CM000665.1:g.10183339_10183345dup	GRCh37
NC_000003.10:g.10158339_10158345dup	NCBI36
NG_008212.3:g.5021_5027dup , LRG_322:g.5021_5027dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256474.2:c.-193_-187dup	ENSP00000256474.2:n.-193_-187dup
NM_000551.3:c.-193_-187dup , LRG_322t1:c.-193_-187dup	NP_000542.1:n.-193_-187dup
NM_198156.2:c.-193_-187dup	NP_937799.1:n.-193_-187dup
NM_001354723.1:c.-193_-187dup	NP_001341652.1:n.-193_-187dup