Canonical Allele Identifier: CA2740090895

Gene: VHL

Linked Data

• ClinVar Variation Id: 2949905
• ClinVar RCV Id: RCV003807263

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146555_10146561del , CM000665.2:g.10146555_10146561del	GRCh38
NC_000003.11:g.10188239_10188245del , CM000665.1:g.10188239_10188245del	GRCh37
NC_000003.10:g.10163239_10163245del	NCBI36
NG_008212.3:g.9921_9927del , LRG_322:g.9921_9927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*59_*65del	ENSP00000512434.1:n.*59_*65del
ENST00000696143.1:c.600-3232_600-3226del	ENSP00000512435.1:n.600-3232_600-3226del
ENST00000696153.1:c.382_388del	ENSP00000512444.1:p.Leu129ThrfsTer?
ENST00000256474.3:c.382_388del MANE Select	ENSP00000256474.3:p.Leu129ThrfsTer28
ENST00000256474.2:c.382_388del	ENSP00000256474.2:p.Leu129ThrfsTer28
ENST00000345392.2:c.341-3232_341-3226del	ENSP00000344757.2:n.341-3232_341-3226del
ENST00000477538.1:n.518_524del
NM_000551.3:c.382_388del , LRG_322t1:c.382_388del	NP_000542.1:p.Leu129ThrfsTer28
NM_198156.2:c.341-3232_341-3226del	NP_937799.1:n.341-3232_341-3226del
XM_011534078.1:c.*59_*65del	XP_011532380.1:n.*59_*65del
NM_001354723.1:c.*18-3232_*18-3226del	NP_001341652.1:n.*18-3232_*18-3226del
NM_000551.4:c.382_388del MANE Select	NP_000542.1:p.Leu129ThrfsTer28
NM_001354723.2:c.*18-3232_*18-3226del	NP_001341652.1:n.*18-3232_*18-3226del
NM_198156.3:c.341-3232_341-3226del	NP_937799.1:n.341-3232_341-3226del