Canonical Allele Identifier: CA645524955

Gene: VHL

Linked Data

• COSMIC: COSM1651631

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146589del , CM000665.2:g.10146589del	GRCh38
NC_000003.11:g.10188273del , CM000665.1:g.10188273del	GRCh37
NC_000003.10:g.10163273del	NCBI36
NG_008212.3:g.9955del , LRG_322:g.9955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*93del	ENSP00000512434.1:n.*93del
ENST00000696143.1:c.600-3198del	ENSP00000512435.1:n.600-3198del
ENST00000696153.1:c.416del	ENSP00000512444.1:p.Ser139PhefsTer30
ENST00000256474.3:c.416del MANE Select	ENSP00000256474.3:p.Ser139PhefsTer20
ENST00000256474.2:c.416del	ENSP00000256474.2:p.Ser139PhefsTer20
ENST00000345392.2:c.341-3198del	ENSP00000344757.2:n.341-3198del
ENST00000477538.1:n.552del
NM_000551.3:c.416del , LRG_322t1:c.416del	NP_000542.1:p.Ser139PhefsTer20
NM_198156.2:c.341-3198del	NP_937799.1:n.341-3198del
XM_011534078.1:c.*93del	XP_011532380.1:n.*93del
NM_001354723.1:c.*18-3198del	NP_001341652.1:n.*18-3198del
NM_000551.4:c.416del MANE Select	NP_000542.1:p.Ser139PhefsTer20
NM_001354723.2:c.*18-3198del	NP_001341652.1:n.*18-3198del
NM_198156.3:c.341-3198del	NP_937799.1:n.341-3198del