Canonical Allele Identifier: CA2664402114

Gene: VHL

Linked Data

• gnomAD v4: 3-10151746-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10151749del , CM000665.2:g.10151749del	GRCh38
NC_000003.11:g.10193433del , CM000665.1:g.10193433del	GRCh37
NC_000003.10:g.10168433del	NCBI36
NG_008212.3:g.15115del , LRG_322:g.15115del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*2103del	ENSP00000512434.1:n.*2103del
ENST00000696143.1:c.2562del	ENSP00000512435.1:n.2562del
ENST00000696153.1:c.*1784del	ENSP00000512444.1:n.*1784del
ENST00000256474.3:c.*1784del MANE Select	ENSP00000256474.3:n.*1784del
ENST00000256474.2:c.*1784del	ENSP00000256474.2:n.*1784del
ENST00000345392.2:c.*1784del	ENSP00000344757.2:n.*1784del
NM_000551.3:c.*1784del , LRG_322t1:c.*1784del	NP_000542.1:n.*1784del
NM_198156.2:c.*1784del	NP_937799.1:n.*1784del
NM_001354723.1:c.*1980del	NP_001341652.1:n.*1980del
NM_000551.4:c.*1784del MANE Select	NP_000542.1:n.*1784del
NM_001354723.2:c.*1980del	NP_001341652.1:n.*1980del
NM_198156.3:c.*1784del	NP_937799.1:n.*1784del