Canonical Allele Identifier: CA1345064201

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10151014_10151022delinsGGGATTACA , CM000665.2:g.10151014_10151022delinsGGGATTACA	GRCh38
NC_000003.11:g.10192698_10192706delinsGGGATTACA , CM000665.1:g.10192698_10192706delinsGGGATTACA	GRCh37
NC_000003.10:g.10167698_10167706delinsGGGATTACA	NCBI36
NG_008212.3:g.14380_14388delinsGGGATTACA , LRG_322:g.14380_14388delinsGGGATTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*1368_*1376delinsGGGATTACA	ENSP00000512434.1:n.*1368_*1376delinsGGGATTACA
ENST00000696143.1:c.1827_1835delinsGGGATTACA	ENSP00000512435.1:n.1827_1835delinsGGGATTACA
ENST00000696153.1:c.*1049_*1057delinsGGGATTACA	ENSP00000512444.1:n.*1049_*1057delinsGGGATTACA
ENST00000256474.3:c.*1049_*1057delinsGGGATTACA MANE Select	ENSP00000256474.3:n.*1049_*1057delinsGGGATTACA
ENST00000256474.2:c.*1049_*1057delinsGGGATTACA	ENSP00000256474.2:n.*1049_*1057delinsGGGATTACA
ENST00000345392.2:c.*1049_*1057delinsGGGATTACA	ENSP00000344757.2:n.*1049_*1057delinsGGGATTACA
NM_000551.3:c.*1049_*1057delinsGGGATTACA , LRG_322t1:c.*1049_*1057delinsGGGATTACA	NP_000542.1:n.*1049_*1057delinsGGGATTACA
NM_198156.2:c.*1049_*1057delinsGGGATTACA	NP_937799.1:n.*1049_*1057delinsGGGATTACA
NM_001354723.1:c.*1245_*1253delinsGGGATTACA	NP_001341652.1:n.*1245_*1253delinsGGGATTACA
NM_000551.4:c.*1049_*1057delinsGGGATTACA MANE Select	NP_000542.1:n.*1049_*1057delinsGGGATTACA
NM_001354723.2:c.*1245_*1253delinsGGGATTACA	NP_001341652.1:n.*1245_*1253delinsGGGATTACA
NM_198156.3:c.*1049_*1057delinsGGGATTACA	NP_937799.1:n.*1049_*1057delinsGGGATTACA