Canonical Allele Identifier: CA2664400317

Gene: VHL

Linked Data

• gnomAD v4: 3-10150360-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150361del , CM000665.2:g.10150361del	GRCh38
NC_000003.11:g.10192045del , CM000665.1:g.10192045del	GRCh37
NC_000003.10:g.10167045del	NCBI36
NG_008212.3:g.13727del , LRG_322:g.13727del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*715del	ENSP00000512434.1:n.*715del
ENST00000696143.1:c.1174del	ENSP00000512435.1:n.1174del
ENST00000696153.1:c.*396del	ENSP00000512444.1:n.*396del
ENST00000256474.3:c.*396del MANE Select	ENSP00000256474.3:n.*396del
ENST00000256474.2:c.*396del	ENSP00000256474.2:n.*396del
ENST00000345392.2:c.*396del	ENSP00000344757.2:n.*396del
NM_000551.3:c.*396del , LRG_322t1:c.*396del	NP_000542.1:n.*396del
NM_198156.2:c.*396del	NP_937799.1:n.*396del
NM_001354723.1:c.*592del	NP_001341652.1:n.*592del
NM_000551.4:c.*396del MANE Select	NP_000542.1:n.*396del
NM_001354723.2:c.*592del	NP_001341652.1:n.*592del
NM_198156.3:c.*396del	NP_937799.1:n.*396del