Canonical Allele Identifier: CA645525012

Gene: VHL

Linked Data

• COSMIC: COSM17771

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146630_10146636del , CM000665.2:g.10146630_10146636del	GRCh38
NC_000003.11:g.10188314_10188320del , CM000665.1:g.10188314_10188320del	GRCh37
NC_000003.10:g.10163314_10163320del	NCBI36
NG_008212.3:g.9996_10002del , LRG_322:g.9996_10002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*134_*140del	ENSP00000512434.1:n.*134_*140del
ENST00000696143.1:c.600-3157_600-3151del	ENSP00000512435.1:n.600-3157_600-3151del
ENST00000696153.1:c.457_463del	ENSP00000512444.1:p.Leu153SerfsTer14
ENST00000256474.3:c.457_463del MANE Select	ENSP00000256474.3:p.Leu153CysfsTer4
ENST00000256474.2:c.457_463del	ENSP00000256474.2:p.Leu153CysfsTer4
ENST00000345392.2:c.341-3157_341-3151del	ENSP00000344757.2:n.341-3157_341-3151del
ENST00000477538.1:n.593_599del
NM_000551.3:c.457_463del , LRG_322t1:c.457_463del	NP_000542.1:p.Leu153CysfsTer4
NM_198156.2:c.341-3157_341-3151del	NP_937799.1:n.341-3157_341-3151del
NM_001354723.1:c.*18-3157_*18-3151del	NP_001341652.1:n.*18-3157_*18-3151del
NM_000551.4:c.457_463del MANE Select	NP_000542.1:p.Leu153CysfsTer4
NM_001354723.2:c.*18-3157_*18-3151del	NP_001341652.1:n.*18-3157_*18-3151del
NM_198156.3:c.341-3157_341-3151del	NP_937799.1:n.341-3157_341-3151del