Canonical Allele Identifier: CA432421886

Gene: VHL

Linked Data

• COSMIC: COSM14409
• MyVariant Identifiers: chr3:g.10188286del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146602del , CM000665.2:g.10146602del	GRCh38
NC_000003.11:g.10188286del , CM000665.1:g.10188286del	GRCh37
NC_000003.10:g.10163286del	NCBI36
NG_008212.3:g.9968del , LRG_322:g.9968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*106del	ENSP00000512434.1:n.*106del
ENST00000696143.1:c.600-3185del	ENSP00000512435.1:n.600-3185del
ENST00000696153.1:c.429del	ENSP00000512444.1:p.Asp143GlufsTer26
ENST00000256474.3:c.429del MANE Select	ENSP00000256474.3:p.Asp143GlufsTer16
ENST00000256474.2:c.429del	ENSP00000256474.2:p.Asp143GlufsTer16
ENST00000345392.2:c.341-3185del	ENSP00000344757.2:n.341-3185del
ENST00000477538.1:n.565del
NM_000551.3:c.429del , LRG_322t1:c.429del	NP_000542.1:p.Asp143GlufsTer16
NM_198156.2:c.341-3185del	NP_937799.1:n.341-3185del
NM_001354723.1:c.*18-3185del	NP_001341652.1:n.*18-3185del
NM_000551.4:c.429del MANE Select	NP_000542.1:p.Asp143GlufsTer16
NM_001354723.2:c.*18-3185del	NP_001341652.1:n.*18-3185del
NM_198156.3:c.341-3185del	NP_937799.1:n.341-3185del