Canonical Allele Identifier: CA2505314397

Gene: VHL

Linked Data

• gnomAD v3: 3-10148377-G-GT
• gnomAD v4: 3-10148377-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10148377_10148378insT , CM000665.2:g.10148377_10148378insT	GRCh38
NC_000003.11:g.10190061_10190062insT , CM000665.1:g.10190061_10190062insT	GRCh37
NC_000003.10:g.10165061_10165062insT	NCBI36
NG_008212.3:g.11743_11744insT , LRG_322:g.11743_11744insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*141-1410_*141-1409insT	ENSP00000512434.1:n.*141-1410_*141-1409insT
ENST00000696143.1:c.600-1410_600-1409insT	ENSP00000512435.1:n.600-1410_600-1409insT
ENST00000696153.1:c.464-327_464-326insT	ENSP00000512444.1:n.464-327_464-326insT
ENST00000256474.3:c.464-1410_464-1409insT MANE Select	ENSP00000256474.3:n.464-1410_464-1409insT
ENST00000256474.2:c.464-1410_464-1409insT	ENSP00000256474.2:n.464-1410_464-1409insT
ENST00000345392.2:c.341-1410_341-1409insT	ENSP00000344757.2:n.341-1410_341-1409insT
ENST00000477538.1:n.600-1410_600-1409insT
NM_000551.3:c.464-1410_464-1409insT , LRG_322t1:c.464-1410_464-1409insT	NP_000542.1:n.464-1410_464-1409insT
NM_198156.2:c.341-1410_341-1409insT	NP_937799.1:n.341-1410_341-1409insT
NM_001354723.1:c.*18-1410_*18-1409insT	NP_001341652.1:n.*18-1410_*18-1409insT
NM_000551.4:c.464-1410_464-1409insT MANE Select	NP_000542.1:n.464-1410_464-1409insT
NM_001354723.2:c.*18-1410_*18-1409insT	NP_001341652.1:n.*18-1410_*18-1409insT
NM_198156.3:c.341-1410_341-1409insT	NP_937799.1:n.341-1410_341-1409insT