Canonical Allele Identifier: CA645524982

Gene: VHL

Linked Data

• COSMIC: COSM5017664

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146612_10146615del , CM000665.2:g.10146612_10146615del	GRCh38
NC_000003.11:g.10188296_10188299del , CM000665.1:g.10188296_10188299del	GRCh37
NC_000003.10:g.10163296_10163299del	NCBI36
NG_008212.3:g.9978_9981del , LRG_322:g.9978_9981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*116_*119del	ENSP00000512434.1:n.*116_*119del
ENST00000696143.1:c.600-3175_600-3172del	ENSP00000512435.1:n.600-3175_600-3172del
ENST00000696153.1:c.439_442del	ENSP00000512444.1:p.Ile147LeufsTer21
ENST00000256474.3:c.439_442del MANE Select	ENSP00000256474.3:p.Ile147LeufsTer11
ENST00000256474.2:c.439_442del	ENSP00000256474.2:p.Ile147LeufsTer11
ENST00000345392.2:c.341-3175_341-3172del	ENSP00000344757.2:n.341-3175_341-3172del
ENST00000477538.1:n.575_578del
NM_000551.3:c.439_442del , LRG_322t1:c.439_442del	NP_000542.1:p.Ile147LeufsTer11
NM_198156.2:c.341-3175_341-3172del	NP_937799.1:n.341-3175_341-3172del
NM_001354723.1:c.*18-3175_*18-3172del	NP_001341652.1:n.*18-3175_*18-3172del
NM_000551.4:c.439_442del MANE Select	NP_000542.1:p.Ile147LeufsTer11
NM_001354723.2:c.*18-3175_*18-3172del	NP_001341652.1:n.*18-3175_*18-3172del
NM_198156.3:c.341-3175_341-3172del	NP_937799.1:n.341-3175_341-3172del