Canonical Allele Identifier: CA2839882171

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142214_10142215del , CM000665.2:g.10142214_10142215del	GRCh38
NC_000003.11:g.10183898_10183899del , CM000665.1:g.10183898_10183899del	GRCh37
NC_000003.10:g.10158898_10158899del	NCBI36
NG_008212.3:g.5580_5581del , LRG_322:g.5580_5581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.340+27_340+28del	ENSP00000512434.1:n.340+27_340+28del
ENST00000696143.1:c.340+27_340+28del	ENSP00000512435.1:n.340+27_340+28del
ENST00000696153.1:c.340+27_340+28del	ENSP00000512444.1:n.340+27_340+28del
ENST00000256474.3:c.340+27_340+28del MANE Select	ENSP00000256474.3:n.340+27_340+28del
ENST00000256474.2:c.340+27_340+28del	ENSP00000256474.2:n.340+27_340+28del
ENST00000345392.2:c.340+27_340+28del	ENSP00000344757.2:n.340+27_340+28del
NM_000551.3:c.340+27_340+28del , LRG_322t1:c.340+27_340+28del	NP_000542.1:n.340+27_340+28del
NM_198156.2:c.340+27_340+28del	NP_937799.1:n.340+27_340+28del
XM_011534078.1:c.340+27_340+28del	XP_011532380.1:n.340+27_340+28del
NM_001354723.1:c.340+27_340+28del	NP_001341652.1:n.340+27_340+28del
NM_000551.4:c.340+27_340+28del MANE Select	NP_000542.1:n.340+27_340+28del
NM_001354723.2:c.340+27_340+28del	NP_001341652.1:n.340+27_340+28del
NM_198156.3:c.340+27_340+28del	NP_937799.1:n.340+27_340+28del