Canonical Allele Identifier: CA432423169

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191491_10191492insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149807_10149808insA , CM000665.2:g.10149807_10149808insA	GRCh38
NC_000003.11:g.10191491_10191492insA , CM000665.1:g.10191491_10191492insA	GRCh37
NC_000003.10:g.10166491_10166492insA	NCBI36
NG_008212.3:g.13173_13174insA , LRG_322:g.13173_13174insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*161_*162insA	ENSP00000512434.1:n.*161_*162insA
ENST00000696143.1:c.620_621insA	ENSP00000512435.1:n.620_621insA
ENST00000696153.1:c.595_596insA	ENSP00000512444.1:p.Cys199Ter
ENST00000256474.3:c.484_485insA MANE Select	ENSP00000256474.3:p.Cys162Ter
ENST00000256474.2:c.484_485insA	ENSP00000256474.2:p.Cys162Ter
ENST00000345392.2:c.361_362insA	ENSP00000344757.2:p.Cys121Ter
ENST00000477538.1:n.620_621insA
NM_000551.3:c.484_485insA , LRG_322t1:c.484_485insA	NP_000542.1:p.Cys162Ter
NM_198156.2:c.361_362insA	NP_937799.1:p.Cys121Ter
NM_001354723.1:c.*38_*39insA	NP_001341652.1:n.*38_*39insA
NM_000551.4:c.484_485insA MANE Select	NP_000542.1:p.Cys162Ter
NM_001354723.2:c.*38_*39insA	NP_001341652.1:n.*38_*39insA
NM_198156.3:c.361_362insA	NP_937799.1:p.Cys121Ter