Canonical Allele Identifier: CA432423084

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191478_10191479insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149794_10149795insA , CM000665.2:g.10149794_10149795insA	GRCh38
NC_000003.11:g.10191478_10191479insA , CM000665.1:g.10191478_10191479insA	GRCh37
NC_000003.10:g.10166478_10166479insA	NCBI36
NG_008212.3:g.13160_13161insA , LRG_322:g.13160_13161insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*148_*149insA	ENSP00000512434.1:n.*148_*149insA
ENST00000696143.1:c.607_608insA	ENSP00000512435.1:n.607_608insA
ENST00000696153.1:c.582_583insA	ENSP00000512444.1:p.Leu195ThrfsTer16
ENST00000256474.3:c.471_472insA MANE Select	ENSP00000256474.3:p.Leu158ThrfsTer16
ENST00000256474.2:c.471_472insA	ENSP00000256474.2:p.Leu158ThrfsTer16
ENST00000345392.2:c.348_349insA	ENSP00000344757.2:p.Leu117ThrfsTer16
ENST00000477538.1:n.607_608insA
NM_000551.3:c.471_472insA , LRG_322t1:c.471_472insA	NP_000542.1:p.Leu158ThrfsTer16
NM_198156.2:c.348_349insA	NP_937799.1:p.Leu117ThrfsTer16
NM_001354723.1:c.*25_*26insA	NP_001341652.1:n.*25_*26insA
NM_000551.4:c.471_472insA MANE Select	NP_000542.1:p.Leu158ThrfsTer16
NM_001354723.2:c.*25_*26insA	NP_001341652.1:n.*25_*26insA
NM_198156.3:c.348_349insA	NP_937799.1:p.Leu117ThrfsTer16