Canonical Allele Identifier: CA1345060826

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10148516_10148517delinsGT , CM000665.2:g.10148516_10148517delinsGT	GRCh38
NC_000003.11:g.10190200_10190201delinsGT , CM000665.1:g.10190200_10190201delinsGT	GRCh37
NC_000003.10:g.10165200_10165201delinsGT	NCBI36
NG_008212.3:g.11882_11883delinsGT , LRG_322:g.11882_11883delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*141-1271_*141-1270delinsGT	ENSP00000512434.1:n.*141-1271_*141-1270delinsGT
ENST00000696143.1:c.600-1271_600-1270delinsGT	ENSP00000512435.1:n.600-1271_600-1270delinsGT
ENST00000696153.1:c.464-188_464-187delinsGT	ENSP00000512444.1:n.464-188_464-187delinsGT
ENST00000256474.3:c.464-1271_464-1270delinsGT MANE Select	ENSP00000256474.3:n.464-1271_464-1270delinsGT
ENST00000256474.2:c.464-1271_464-1270delinsGT	ENSP00000256474.2:n.464-1271_464-1270delinsGT
ENST00000345392.2:c.341-1271_341-1270delinsGT	ENSP00000344757.2:n.341-1271_341-1270delinsGT
ENST00000477538.1:n.600-1271_600-1270delinsGT
NM_000551.3:c.464-1271_464-1270delinsGT , LRG_322t1:c.464-1271_464-1270delinsGT	NP_000542.1:n.464-1271_464-1270delinsGT
NM_198156.2:c.341-1271_341-1270delinsGT	NP_937799.1:n.341-1271_341-1270delinsGT
NM_001354723.1:c.*18-1271_*18-1270delinsGT	NP_001341652.1:n.*18-1271_*18-1270delinsGT
NM_000551.4:c.464-1271_464-1270delinsGT MANE Select	NP_000542.1:n.464-1271_464-1270delinsGT
NM_001354723.2:c.*18-1271_*18-1270delinsGT	NP_001341652.1:n.*18-1271_*18-1270delinsGT
NM_198156.3:c.341-1271_341-1270delinsGT	NP_937799.1:n.341-1271_341-1270delinsGT