Canonical Allele Identifier: CA2664403073

Gene: VHL

Linked Data

• gnomAD v4: 3-10152362-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152364del , CM000665.2:g.10152364del	GRCh38
NC_000003.11:g.10194048del , CM000665.1:g.10194048del	GRCh37
NC_000003.10:g.10169048del	NCBI36
NG_008212.3:g.15730del , LRG_322:g.15730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2399del	ENSP00000512444.1:n.*2399del
ENST00000256474.3:c.*2399del MANE Select	ENSP00000256474.3:n.*2399del
NM_000551.3:c.*2399del , LRG_322t1:c.*2399del	NP_000542.1:n.*2399del
NM_198156.2:c.*2399del	NP_937799.1:n.*2399del
NM_001354723.1:c.*2595del	NP_001341652.1:n.*2595del
NM_000551.4:c.*2399del MANE Select	NP_000542.1:n.*2399del
NM_001354723.2:c.*2595del	NP_001341652.1:n.*2595del
NM_198156.3:c.*2399del	NP_937799.1:n.*2399del