Canonical Allele Identifier: CA645524924

Gene: VHL

Linked Data

• COSMIC: COSM17899

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146562_10146565del , CM000665.2:g.10146562_10146565del	GRCh38
NC_000003.11:g.10188246_10188249del , CM000665.1:g.10188246_10188249del	GRCh37
NC_000003.10:g.10163246_10163249del	NCBI36
NG_008212.3:g.9928_9931del , LRG_322:g.9928_9931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*66_*69del	ENSP00000512434.1:n.*66_*69del
ENST00000696143.1:c.600-3225_600-3222del	ENSP00000512435.1:n.600-3225_600-3222del
ENST00000696153.1:c.389_392del	ENSP00000512444.1:p.Val130AlafsTer?
ENST00000256474.3:c.389_392del MANE Select	ENSP00000256474.3:p.Val130AlafsTer28
ENST00000256474.2:c.389_392del	ENSP00000256474.2:p.Val130AlafsTer28
ENST00000345392.2:c.341-3225_341-3222del	ENSP00000344757.2:n.341-3225_341-3222del
ENST00000477538.1:n.525_528del
NM_000551.3:c.389_392del , LRG_322t1:c.389_392del	NP_000542.1:p.Val130AlafsTer28
NM_198156.2:c.341-3225_341-3222del	NP_937799.1:n.341-3225_341-3222del
XM_011534078.1:c.*66_*69del	XP_011532380.1:n.*66_*69del
NM_001354723.1:c.*18-3225_*18-3222del	NP_001341652.1:n.*18-3225_*18-3222del
NM_000551.4:c.389_392del MANE Select	NP_000542.1:p.Val130AlafsTer28
NM_001354723.2:c.*18-3225_*18-3222del	NP_001341652.1:n.*18-3225_*18-3222del
NM_198156.3:c.341-3225_341-3222del	NP_937799.1:n.341-3225_341-3222del