Canonical Allele Identifier: CA2577505228

Gene: VHL

Linked Data

• gnomAD v4: 3-10141807-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141810del , CM000665.2:g.10141810del	GRCh38
NC_000003.11:g.10183494del , CM000665.1:g.10183494del	GRCh37
NC_000003.10:g.10158494del	NCBI36
NG_008212.3:g.5176del , LRG_322:g.5176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.-38del	ENSP00000512434.1:n.-38del
ENST00000696153.1:c.-38del	ENSP00000512444.1:n.-38del
ENST00000256474.3:c.-38del MANE Select	ENSP00000256474.3:n.-38del
ENST00000256474.2:c.-38del	ENSP00000256474.2:n.-38del
ENST00000345392.2:c.-38del	ENSP00000344757.2:n.-38del
NM_000551.3:c.-38del , LRG_322t1:c.-38del	NP_000542.1:n.-38del
NM_198156.2:c.-38del	NP_937799.1:n.-38del
XM_011534078.1:c.-38del	XP_011532380.1:n.-38del
NM_001354723.1:c.-38del	NP_001341652.1:n.-38del
NM_000551.4:c.-38del MANE Select	NP_000542.1:n.-38del
NM_001354723.2:c.-38del	NP_001341652.1:n.-38del
NM_198156.3:c.-38del	NP_937799.1:n.-38del