Canonical Allele Identifier: CA647437033

Gene: VHL

Linked Data

• COSMIC: COSN15094834

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150222_10150223insT , CM000665.2:g.10150222_10150223insT	GRCh38
NC_000003.11:g.10191906_10191907insT , CM000665.1:g.10191906_10191907insT	GRCh37
NC_000003.10:g.10166906_10166907insT	NCBI36
NG_008212.3:g.13588_13589insT , LRG_322:g.13588_13589insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*576_*577insT	ENSP00000512434.1:n.*576_*577insT
ENST00000696143.1:c.1035_1036insT	ENSP00000512435.1:n.1035_1036insT
ENST00000696153.1:c.*257_*258insT	ENSP00000512444.1:n.*257_*258insT
ENST00000256474.3:c.*257_*258insT MANE Select	ENSP00000256474.3:n.*257_*258insT
ENST00000256474.2:c.*257_*258insT	ENSP00000256474.2:n.*257_*258insT
ENST00000345392.2:c.*257_*258insT	ENSP00000344757.2:n.*257_*258insT
NM_000551.3:c.*257_*258insT , LRG_322t1:c.*257_*258insT	NP_000542.1:n.*257_*258insT
NM_198156.2:c.*257_*258insT	NP_937799.1:n.*257_*258insT
NM_001354723.1:c.*453_*454insT	NP_001341652.1:n.*453_*454insT
NM_000551.4:c.*257_*258insT MANE Select	NP_000542.1:n.*257_*258insT
NM_001354723.2:c.*453_*454insT	NP_001341652.1:n.*453_*454insT
NM_198156.3:c.*257_*258insT	NP_937799.1:n.*257_*258insT