Canonical Allele Identifier: CA2740090925

Gene: VHL

Linked Data

• ClinVar Variation Id: 2943249
• ClinVar RCV Id: RCV003800367

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142944dup , CM000665.2:g.10142944dup	GRCh38
NC_000003.11:g.10184628dup , CM000665.1:g.10184628dup	GRCh37
NC_000003.10:g.10159628dup	NCBI36
NG_008212.3:g.6310dup , LRG_322:g.6310dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.522dup	ENSP00000512434.1:p.Gly175ArgfsTer7
ENST00000696143.1:c.522dup	ENSP00000512435.1:p.Gly175ArgfsTer7
ENST00000696153.1:c.340+757dup	ENSP00000512444.1:n.340+757dup
ENST00000256474.3:c.340+757dup MANE Select	ENSP00000256474.3:n.340+757dup
ENST00000256474.2:c.340+757dup	ENSP00000256474.2:n.340+757dup
ENST00000345392.2:c.340+757dup	ENSP00000344757.2:n.340+757dup
ENST00000477538.1:n.399dup
NM_000551.3:c.340+757dup , LRG_322t1:c.340+757dup	NP_000542.1:n.340+757dup
NM_198156.2:c.340+757dup	NP_937799.1:n.340+757dup
XM_011534078.1:c.522dup	XP_011532380.1:p.Gly175ArgfsTer7
NM_001354723.1:c.522dup	NP_001341652.1:p.Gly175ArgfsTer7
NM_000551.4:c.340+757dup MANE Select	NP_000542.1:n.340+757dup
NM_001354723.2:c.522dup	NP_001341652.1:p.Gly175ArgfsTer7
NM_198156.3:c.340+757dup	NP_937799.1:n.340+757dup