Canonical Allele Identifier: CA2664400195

Gene: VHL

Linked Data

• gnomAD v4: 3-10150212-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150217dup , CM000665.2:g.10150217dup	GRCh38
NC_000003.11:g.10191901dup , CM000665.1:g.10191901dup	GRCh37
NC_000003.10:g.10166901dup	NCBI36
NG_008212.3:g.13583dup , LRG_322:g.13583dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*571dup	ENSP00000512434.1:n.*571dup
ENST00000696143.1:c.1030dup	ENSP00000512435.1:n.1030dup
ENST00000696153.1:c.*252dup	ENSP00000512444.1:n.*252dup
ENST00000256474.3:c.*252dup MANE Select	ENSP00000256474.3:n.*252dup
ENST00000256474.2:c.*252dup	ENSP00000256474.2:n.*252dup
ENST00000345392.2:c.*252dup	ENSP00000344757.2:n.*252dup
NM_000551.3:c.*252dup , LRG_322t1:c.*252dup	NP_000542.1:n.*252dup
NM_198156.2:c.*252dup	NP_937799.1:n.*252dup
NM_001354723.1:c.*448dup	NP_001341652.1:n.*448dup
NM_000551.4:c.*252dup MANE Select	NP_000542.1:n.*252dup
NM_001354723.2:c.*448dup	NP_001341652.1:n.*448dup
NM_198156.3:c.*252dup	NP_937799.1:n.*252dup