Canonical Allele Identifier: CA432423136

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191485_10191486insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149802dup , CM000665.2:g.10149802dup	GRCh38
NC_000003.11:g.10191486dup , CM000665.1:g.10191486dup	GRCh37
NC_000003.10:g.10166486dup	NCBI36
NG_008212.3:g.13168dup , LRG_322:g.13168dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*156dup	ENSP00000512434.1:n.*156dup
ENST00000696143.1:c.615dup	ENSP00000512435.1:n.615dup
ENST00000696153.1:c.590dup	ENSP00000512444.1:p.Arg198AlafsTer13
ENST00000256474.3:c.479dup MANE Select	ENSP00000256474.3:p.Arg161AlafsTer13
ENST00000256474.2:c.479dup	ENSP00000256474.2:p.Arg161AlafsTer13
ENST00000345392.2:c.356dup	ENSP00000344757.2:p.Arg120AlafsTer13
ENST00000477538.1:n.615dup
NM_000551.3:c.479dup , LRG_322t1:c.479dup	NP_000542.1:p.Arg161AlafsTer13
NM_198156.2:c.356dup	NP_937799.1:p.Arg120AlafsTer13
NM_001354723.1:c.*33dup	NP_001341652.1:n.*33dup
NM_000551.4:c.479dup MANE Select	NP_000542.1:p.Arg161AlafsTer13
NM_001354723.2:c.*33dup	NP_001341652.1:n.*33dup
NM_198156.3:c.356dup	NP_937799.1:p.Arg120AlafsTer13