Canonical Allele Identifier: CA1139655728

Gene: VHL

Linked Data

• ClinVar Variation Id: 949409
• ClinVar RCV Id: RCV001220866
• dbSNP Id: rs1696134947

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142111_10142114dup , CM000665.2:g.10142111_10142114dup	GRCh38
NC_000003.11:g.10183795_10183798dup , CM000665.1:g.10183795_10183798dup	GRCh37
NC_000003.10:g.10158795_10158798dup	NCBI36
NG_008212.3:g.5477_5480dup , LRG_322:g.5477_5480dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.264_267dup	ENSP00000512434.1:p.Asn90AlafsTer?
ENST00000696143.1:c.264_267dup	ENSP00000512435.1:p.Asn90AlafsTer?
ENST00000696153.1:c.264_267dup	ENSP00000512444.1:p.Asn90AlafsTer?
ENST00000256474.3:c.264_267dup MANE Select	ENSP00000256474.3:p.Asn90AlafsTer?
ENST00000256474.2:c.264_267dup	ENSP00000256474.2:p.Asn90AlafsTer?
ENST00000345392.2:c.264_267dup	ENSP00000344757.2:p.Asn90AlafsTer?
NM_000551.3:c.264_267dup , LRG_322t1:c.264_267dup	NP_000542.1:p.Asn90AlafsTer?
NM_198156.2:c.264_267dup	NP_937799.1:p.Asn90AlafsTer?
XM_011534078.1:c.264_267dup	XP_011532380.1:p.Asn90AlafsTer?
NM_001354723.1:c.264_267dup	NP_001341652.1:p.Asn90AlafsTer?
NM_000551.4:c.264_267dup MANE Select	NP_000542.1:p.Asn90AlafsTer?
NM_001354723.2:c.264_267dup	NP_001341652.1:p.Asn90AlafsTer?
NM_198156.3:c.264_267dup	NP_937799.1:p.Asn90AlafsTer?