Canonical Allele Identifier: CA2830774020

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10148596_10148599del , CM000665.2:g.10148596_10148599del	GRCh38
NC_000003.11:g.10190280_10190283del , CM000665.1:g.10190280_10190283del	GRCh37
NC_000003.10:g.10165280_10165283del	NCBI36
NG_008212.3:g.11962_11965del , LRG_322:g.11962_11965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-1191_*141-1188del	ENSP00000512434.1:n.*141-1191_*141-1188del
ENST00000696143.1:c.600-1191_600-1188del	ENSP00000512435.1:n.600-1191_600-1188del
ENST00000696153.1:c.464-108_464-105del	ENSP00000512444.1:n.464-108_464-105del
ENST00000256474.3:c.464-1191_464-1188del MANE Select	ENSP00000256474.3:n.464-1191_464-1188del
ENST00000256474.2:c.464-1191_464-1188del	ENSP00000256474.2:n.464-1191_464-1188del
ENST00000345392.2:c.341-1191_341-1188del	ENSP00000344757.2:n.341-1191_341-1188del
ENST00000477538.1:n.600-1191_600-1188del
NM_000551.3:c.464-1191_464-1188del , LRG_322t1:c.464-1191_464-1188del	NP_000542.1:n.464-1191_464-1188del
NM_198156.2:c.341-1191_341-1188del	NP_937799.1:n.341-1191_341-1188del
NM_001354723.1:c.*18-1191_*18-1188del	NP_001341652.1:n.*18-1191_*18-1188del
NM_000551.4:c.464-1191_464-1188del MANE Select	NP_000542.1:n.464-1191_464-1188del
NM_001354723.2:c.*18-1191_*18-1188del	NP_001341652.1:n.*18-1191_*18-1188del
NM_198156.3:c.341-1191_341-1188del	NP_937799.1:n.341-1191_341-1188del