Canonical Allele Identifier: CA2664400049

Gene: VHL

Linked Data

• gnomAD v4: 3-10149698-A-AACT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149698_10149699insACT , CM000665.2:g.10149698_10149699insACT	GRCh38
NC_000003.11:g.10191382_10191383insACT , CM000665.1:g.10191382_10191383insACT	GRCh37
NC_000003.10:g.10166382_10166383insACT	NCBI36
NG_008212.3:g.13064_13065insACT , LRG_322:g.13064_13065insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-89_*141-88insACT	ENSP00000512434.1:n.*141-89_*141-88insACT
ENST00000696143.1:c.600-89_600-88insACT	ENSP00000512435.1:n.600-89_600-88insACT
ENST00000696153.1:c.575-89_575-88insACT	ENSP00000512444.1:n.575-89_575-88insACT
ENST00000256474.3:c.464-89_464-88insACT MANE Select	ENSP00000256474.3:n.464-89_464-88insACT
ENST00000256474.2:c.464-89_464-88insACT	ENSP00000256474.2:n.464-89_464-88insACT
ENST00000345392.2:c.341-89_341-88insACT	ENSP00000344757.2:n.341-89_341-88insACT
ENST00000477538.1:n.600-89_600-88insACT
NM_000551.3:c.464-89_464-88insACT , LRG_322t1:c.464-89_464-88insACT	NP_000542.1:n.464-89_464-88insACT
NM_198156.2:c.341-89_341-88insACT	NP_937799.1:n.341-89_341-88insACT
NM_001354723.1:c.*18-89_*18-88insACT	NP_001341652.1:n.*18-89_*18-88insACT
NM_000551.4:c.464-89_464-88insACT MANE Select	NP_000542.1:n.464-89_464-88insACT
NM_001354723.2:c.*18-89_*18-88insACT	NP_001341652.1:n.*18-89_*18-88insACT
NM_198156.3:c.341-89_341-88insACT	NP_937799.1:n.341-89_341-88insACT