Canonical Allele Identifier: CA645525093

Gene: VHL

Linked Data

• COSMIC: COSM17916

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149844dup , CM000665.2:g.10149844dup	GRCh38
NC_000003.11:g.10191528dup , CM000665.1:g.10191528dup	GRCh37
NC_000003.10:g.10166528dup	NCBI36
NG_008212.3:g.13210dup , LRG_322:g.13210dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*198dup	ENSP00000512434.1:n.*198dup
ENST00000696143.1:c.657dup	ENSP00000512435.1:n.657dup
ENST00000696153.1:c.632dup	ENSP00000512444.1:p.Asn211LysfsTer?
ENST00000256474.3:c.521dup MANE Select	ENSP00000256474.3:p.Asn174LysfsTer?
ENST00000256474.2:c.521dup	ENSP00000256474.2:p.Asn174LysfsTer?
ENST00000345392.2:c.398dup	ENSP00000344757.2:p.Asn133LysfsTer?
ENST00000477538.1:n.657dup
NM_000551.3:c.521dup , LRG_322t1:c.521dup	NP_000542.1:p.Asn174LysfsTer?
NM_198156.2:c.398dup	NP_937799.1:p.Asn133LysfsTer?
NM_001354723.1:c.*75dup	NP_001341652.1:n.*75dup
NM_000551.4:c.521dup MANE Select	NP_000542.1:p.Asn174LysfsTer?
NM_001354723.2:c.*75dup	NP_001341652.1:n.*75dup
NM_198156.3:c.398dup	NP_937799.1:p.Asn133LysfsTer?