Canonical Allele Identifier: CA2573051018

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142173_10142186dup , CM000665.2:g.10142173_10142186dup	GRCh38
NC_000003.11:g.10183857_10183870dup , CM000665.1:g.10183857_10183870dup	GRCh37
NC_000003.10:g.10158857_10158870dup	NCBI36
NG_008212.3:g.5539_5552dup , LRG_322:g.5539_5552dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.326_339dup	ENSP00000512434.1:p.Val114SerfsTer8
ENST00000696143.1:c.326_339dup	ENSP00000512435.1:p.Val114SerfsTer8
ENST00000696153.1:c.326_339dup	ENSP00000512444.1:p.Gly114SerfsTer?
ENST00000256474.3:c.326_339dup MANE Select	ENSP00000256474.3:p.Gly114SerfsTer?
ENST00000256474.2:c.326_339dup	ENSP00000256474.2:p.Gly114SerfsTer?
ENST00000345392.2:c.326_339dup	ENSP00000344757.2:p.Val114SerfsTer9
NM_000551.3:c.326_339dup , LRG_322t1:c.326_339dup	NP_000542.1:p.Gly114SerfsTer?
NM_198156.2:c.326_339dup	NP_937799.1:p.Val114SerfsTer9
XM_011534078.1:c.326_339dup	XP_011532380.1:p.Val114SerfsTer8
NM_001354723.1:c.326_339dup	NP_001341652.1:p.Val114SerfsTer8
NM_000551.4:c.326_339dup MANE Select	NP_000542.1:p.Gly114SerfsTer?
NM_001354723.2:c.326_339dup	NP_001341652.1:p.Val114SerfsTer8
NM_198156.3:c.326_339dup	NP_937799.1:p.Val114SerfsTer9