Canonical Allele Identifier: CA1045001406

Gene: VHL

Linked Data

• gnomAD v3: 3-10152527-C-CT
• gnomAD v4: 3-10152527-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152528dup , CM000665.2:g.10152528dup	GRCh38
NC_000003.11:g.10194212dup , CM000665.1:g.10194212dup	GRCh37
NC_000003.10:g.10169212dup	NCBI36
NG_008212.3:g.15894dup , LRG_322:g.15894dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2563dup	ENSP00000512444.1:n.*2563dup
ENST00000256474.3:c.*2563dup MANE Select	ENSP00000256474.3:n.*2563dup
NM_000551.3:c.*2563dup , LRG_322t1:c.*2563dup	NP_000542.1:n.*2563dup
NM_198156.2:c.*2563dup	NP_937799.1:n.*2563dup
NM_001354723.1:c.*2759dup	NP_001341652.1:n.*2759dup
NM_000551.4:c.*2563dup MANE Select	NP_000542.1:n.*2563dup
NM_001354723.2:c.*2759dup	NP_001341652.1:n.*2759dup
NM_198156.3:c.*2563dup	NP_937799.1:n.*2563dup