Canonical Allele Identifier: CA2664400025

Gene: VHL

Linked Data

• gnomAD v4: 3-10149663-C-CTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149666_10149670dup , CM000665.2:g.10149666_10149670dup	GRCh38
NC_000003.11:g.10191350_10191354dup , CM000665.1:g.10191350_10191354dup	GRCh37
NC_000003.10:g.10166350_10166354dup	NCBI36
NG_008212.3:g.13032_13036dup , LRG_322:g.13032_13036dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-121_*141-117dup	ENSP00000512434.1:n.*141-121_*141-117dup
ENST00000696143.1:c.600-121_600-117dup	ENSP00000512435.1:n.600-121_600-117dup
ENST00000696153.1:c.575-121_575-117dup	ENSP00000512444.1:n.575-121_575-117dup
ENST00000256474.3:c.464-121_464-117dup MANE Select	ENSP00000256474.3:n.464-121_464-117dup
ENST00000256474.2:c.464-121_464-117dup	ENSP00000256474.2:n.464-121_464-117dup
ENST00000345392.2:c.341-121_341-117dup	ENSP00000344757.2:n.341-121_341-117dup
ENST00000477538.1:n.600-121_600-117dup
NM_000551.3:c.464-121_464-117dup , LRG_322t1:c.464-121_464-117dup	NP_000542.1:n.464-121_464-117dup
NM_198156.2:c.341-121_341-117dup	NP_937799.1:n.341-121_341-117dup
NM_001354723.1:c.*18-121_*18-117dup	NP_001341652.1:n.*18-121_*18-117dup
NM_000551.4:c.464-121_464-117dup MANE Select	NP_000542.1:n.464-121_464-117dup
NM_001354723.2:c.*18-121_*18-117dup	NP_001341652.1:n.*18-121_*18-117dup
NM_198156.3:c.341-121_341-117dup	NP_937799.1:n.341-121_341-117dup