Canonical Allele Identifier: CA645524991

Gene: VHL

Linked Data

• COSMIC: COSM17868 ; COSM18117

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146616_10146617del , CM000665.2:g.10146616_10146617del	GRCh38
NC_000003.11:g.10188300_10188301del , CM000665.1:g.10188300_10188301del	GRCh37
NC_000003.10:g.10163300_10163301del	NCBI36
NG_008212.3:g.9982_9983del , LRG_322:g.9982_9983del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*120_*121del	ENSP00000512434.1:n.*120_*121del
ENST00000696143.1:c.600-3171_600-3170del	ENSP00000512435.1:n.600-3171_600-3170del
ENST00000696153.1:c.443_444del	ENSP00000512444.1:p.Phe148CysfsTer?
ENST00000256474.3:c.443_444del MANE Select	ENSP00000256474.3:p.Phe148CysfsTer25
ENST00000256474.2:c.443_444del	ENSP00000256474.2:p.Phe148CysfsTer25
ENST00000345392.2:c.341-3171_341-3170del	ENSP00000344757.2:n.341-3171_341-3170del
ENST00000477538.1:n.579_580del
NM_000551.3:c.443_444del , LRG_322t1:c.443_444del	NP_000542.1:p.Phe148CysfsTer25
NM_198156.2:c.341-3171_341-3170del	NP_937799.1:n.341-3171_341-3170del
NM_001354723.1:c.*18-3171_*18-3170del	NP_001341652.1:n.*18-3171_*18-3170del
NM_000551.4:c.443_444del MANE Select	NP_000542.1:p.Phe148CysfsTer25
NM_001354723.2:c.*18-3171_*18-3170del	NP_001341652.1:n.*18-3171_*18-3170del
NM_198156.3:c.341-3171_341-3170del	NP_937799.1:n.341-3171_341-3170del