Canonical Allele Identifier: CA1044998691

Gene: VHL

Linked Data

• gnomAD v3: 3-10148376-G-GT
• gnomAD v4: 3-10148376-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10148376_10148377insT , CM000665.2:g.10148376_10148377insT	GRCh38
NC_000003.11:g.10190060_10190061insT , CM000665.1:g.10190060_10190061insT	GRCh37
NC_000003.10:g.10165060_10165061insT	NCBI36
NG_008212.3:g.11742_11743insT , LRG_322:g.11742_11743insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-1411_*141-1410insT	ENSP00000512434.1:n.*141-1411_*141-1410insT
ENST00000696143.1:c.600-1411_600-1410insT	ENSP00000512435.1:n.600-1411_600-1410insT
ENST00000696153.1:c.464-328_464-327insT	ENSP00000512444.1:n.464-328_464-327insT
ENST00000256474.3:c.464-1411_464-1410insT MANE Select	ENSP00000256474.3:n.464-1411_464-1410insT
ENST00000256474.2:c.464-1411_464-1410insT	ENSP00000256474.2:n.464-1411_464-1410insT
ENST00000345392.2:c.341-1411_341-1410insT	ENSP00000344757.2:n.341-1411_341-1410insT
ENST00000477538.1:n.600-1411_600-1410insT
NM_000551.3:c.464-1411_464-1410insT , LRG_322t1:c.464-1411_464-1410insT	NP_000542.1:n.464-1411_464-1410insT
NM_198156.2:c.341-1411_341-1410insT	NP_937799.1:n.341-1411_341-1410insT
NM_001354723.1:c.*18-1411_*18-1410insT	NP_001341652.1:n.*18-1411_*18-1410insT
NM_000551.4:c.464-1411_464-1410insT MANE Select	NP_000542.1:n.464-1411_464-1410insT
NM_001354723.2:c.*18-1411_*18-1410insT	NP_001341652.1:n.*18-1411_*18-1410insT
NM_198156.3:c.341-1411_341-1410insT	NP_937799.1:n.341-1411_341-1410insT