Canonical Allele Identifier: CA2842635432

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142197dup , CM000665.2:g.10142197dup	GRCh38
NC_000003.11:g.10183881dup , CM000665.1:g.10183881dup	GRCh37
NC_000003.10:g.10158881dup	NCBI36
NG_008212.3:g.5563dup , LRG_322:g.5563dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.340+10dup	ENSP00000512434.1:n.340+10dup
ENST00000696143.1:c.340+10dup	ENSP00000512435.1:n.340+10dup
ENST00000696153.1:c.340+10dup	ENSP00000512444.1:n.340+10dup
ENST00000256474.3:c.340+10dup MANE Select	ENSP00000256474.3:n.340+10dup
ENST00000256474.2:c.340+10dup	ENSP00000256474.2:n.340+10dup
ENST00000345392.2:c.340+10dup	ENSP00000344757.2:n.340+10dup
NM_000551.3:c.340+10dup , LRG_322t1:c.340+10dup	NP_000542.1:n.340+10dup
NM_198156.2:c.340+10dup	NP_937799.1:n.340+10dup
XM_011534078.1:c.340+10dup	XP_011532380.1:n.340+10dup
NM_001354723.1:c.340+10dup	NP_001341652.1:n.340+10dup
NM_000551.4:c.340+10dup MANE Select	NP_000542.1:n.340+10dup
NM_001354723.2:c.340+10dup	NP_001341652.1:n.340+10dup
NM_198156.3:c.340+10dup	NP_937799.1:n.340+10dup