Canonical Allele Identifier: CA2664400032

Gene: VHL

Linked Data

• gnomAD v4: 3-10149671-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149674dup , CM000665.2:g.10149674dup	GRCh38
NC_000003.11:g.10191358dup , CM000665.1:g.10191358dup	GRCh37
NC_000003.10:g.10166358dup	NCBI36
NG_008212.3:g.13040dup , LRG_322:g.13040dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-113dup	ENSP00000512434.1:n.*141-113dup
ENST00000696143.1:c.600-113dup	ENSP00000512435.1:n.600-113dup
ENST00000696153.1:c.575-113dup	ENSP00000512444.1:n.575-113dup
ENST00000256474.3:c.464-113dup MANE Select	ENSP00000256474.3:n.464-113dup
ENST00000256474.2:c.464-113dup	ENSP00000256474.2:n.464-113dup
ENST00000345392.2:c.341-113dup	ENSP00000344757.2:n.341-113dup
ENST00000477538.1:n.600-113dup
NM_000551.3:c.464-113dup , LRG_322t1:c.464-113dup	NP_000542.1:n.464-113dup
NM_198156.2:c.341-113dup	NP_937799.1:n.341-113dup
NM_001354723.1:c.*18-113dup	NP_001341652.1:n.*18-113dup
NM_000551.4:c.464-113dup MANE Select	NP_000542.1:n.464-113dup
NM_001354723.2:c.*18-113dup	NP_001341652.1:n.*18-113dup
NM_198156.3:c.341-113dup	NP_937799.1:n.341-113dup