Canonical Allele Identifier: CA2250957

Gene: VHL

Linked Data

• dbSNP Id: rs781141216
• ExAC: 3:10191697 C / CT
• gnomAD v2: 3-10191697-C-CT
• MyVariant Identifiers: chr3:g.10191697_10191698insT (hg19) ; chr3:g.10150013_10150014insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150014dup , CM000665.2:g.10150014dup	GRCh38
NC_000003.11:g.10191698dup , CM000665.1:g.10191698dup	GRCh37
NC_000003.10:g.10166698dup	NCBI36
NG_008212.3:g.13380dup , LRG_322:g.13380dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*368dup	ENSP00000512434.1:n.*368dup
ENST00000696143.1:c.827dup	ENSP00000512435.1:n.827dup
ENST00000696153.1:c.*49dup	ENSP00000512444.1:n.*49dup
ENST00000256474.3:c.*49dup MANE Select	ENSP00000256474.3:n.*49dup
ENST00000256474.2:c.*49dup	ENSP00000256474.2:n.*49dup
ENST00000345392.2:c.*49dup	ENSP00000344757.2:n.*49dup
ENST00000477538.1:n.827dup
NM_000551.3:c.*49dup , LRG_322t1:c.*49dup	NP_000542.1:n.*49dup
NM_198156.2:c.*49dup	NP_937799.1:n.*49dup
NM_001354723.1:c.*245dup	NP_001341652.1:n.*245dup
NM_000551.4:c.*49dup MANE Select	NP_000542.1:n.*49dup
NM_001354723.2:c.*245dup	NP_001341652.1:n.*245dup
NM_198156.3:c.*49dup	NP_937799.1:n.*49dup