Canonical Allele Identifier: CA1044995268

Gene: VHL

Linked Data

• dbSNP Id: rs556405301
• gnomAD v3: 3-10142341-CTT-C
• gnomAD v4: 3-10142341-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142360_10142361del , CM000665.2:g.10142360_10142361del	GRCh38
NC_000003.11:g.10184044_10184045del , CM000665.1:g.10184044_10184045del	GRCh37
NC_000003.10:g.10159044_10159045del	NCBI36
NG_008212.3:g.5726_5727del , LRG_322:g.5726_5727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.340+173_340+174del	ENSP00000512434.1:n.340+173_340+174del
ENST00000696143.1:c.340+173_340+174del	ENSP00000512435.1:n.340+173_340+174del
ENST00000696153.1:c.340+173_340+174del	ENSP00000512444.1:n.340+173_340+174del
ENST00000256474.3:c.340+173_340+174del MANE Select	ENSP00000256474.3:n.340+173_340+174del
ENST00000256474.2:c.340+173_340+174del	ENSP00000256474.2:n.340+173_340+174del
ENST00000345392.2:c.340+173_340+174del	ENSP00000344757.2:n.340+173_340+174del
NM_000551.3:c.340+173_340+174del , LRG_322t1:c.340+173_340+174del	NP_000542.1:n.340+173_340+174del
NM_198156.2:c.340+173_340+174del	NP_937799.1:n.340+173_340+174del
XM_011534078.1:c.340+173_340+174del	XP_011532380.1:n.340+173_340+174del
NM_001354723.1:c.340+173_340+174del	NP_001341652.1:n.340+173_340+174del
NM_000551.4:c.340+173_340+174del MANE Select	NP_000542.1:n.340+173_340+174del
NM_001354723.2:c.340+173_340+174del	NP_001341652.1:n.340+173_340+174del
NM_198156.3:c.340+173_340+174del	NP_937799.1:n.340+173_340+174del