Canonical Allele Identifier: CA2499216358

Gene: VHL

Linked Data

• ClinVar Variation Id: 997723
• ClinVar RCV Id: RCV001293280

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142631_10148600del , CM000665.2:g.10142631_10148600del	GRCh38
NC_000003.11:g.10184315_10190284del , CM000665.1:g.10184315_10190284del	GRCh37
NC_000003.10:g.10159315_10165284del	NCBI36
NG_008212.3:g.5997_11966del , LRG_322:g.5997_11966del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.341-132_*141-1187del
ENST00000696143.1:c.341-132_600-1187del
ENST00000696153.1:c.340+444_464-104del
ENST00000256474.3:c.340+444_464-1187del
ENST00000256474.2:c.340+444_464-1187del
ENST00000345392.2:c.340+444_341-1187del	ENSP00000344757.2:n.340+444_341-1187del
ENST00000477538.1:n.86_600-1187del
NM_000551.3:c.340+444_464-1187del , LRG_322t1:c.340+444_464-1187del
NM_198156.2:c.340+444_341-1187del	NP_937799.1:n.340+444_341-1187del
NM_001354723.1:c.341-132_*18-1187del
NM_000551.4:c.340+444_464-1187del
NM_001354723.2:c.341-132_*18-1187del
NM_198156.3:c.340+444_341-1187del	NP_937799.1:n.340+444_341-1187del