Canonical Allele Identifier: CA645524985

Gene: VHL

Linked Data

• COSMIC: COSM5075579

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146611dup , CM000665.2:g.10146611dup	GRCh38
NC_000003.11:g.10188295dup , CM000665.1:g.10188295dup	GRCh37
NC_000003.10:g.10163295dup	NCBI36
NG_008212.3:g.9977dup , LRG_322:g.9977dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*115dup	ENSP00000512434.1:n.*115dup
ENST00000696143.1:c.600-3176dup	ENSP00000512435.1:n.600-3176dup
ENST00000696153.1:c.438dup	ENSP00000512444.1:p.Ile147TyrfsTer?
ENST00000256474.3:c.438dup MANE Select	ENSP00000256474.3:p.Ile147TyrfsTer27
ENST00000256474.2:c.438dup	ENSP00000256474.2:p.Ile147TyrfsTer27
ENST00000345392.2:c.341-3176dup	ENSP00000344757.2:n.341-3176dup
ENST00000477538.1:n.574dup
NM_000551.3:c.438dup , LRG_322t1:c.438dup	NP_000542.1:p.Ile147TyrfsTer27
NM_198156.2:c.341-3176dup	NP_937799.1:n.341-3176dup
NM_001354723.1:c.*18-3176dup	NP_001341652.1:n.*18-3176dup
NM_000551.4:c.438dup MANE Select	NP_000542.1:p.Ile147TyrfsTer27
NM_001354723.2:c.*18-3176dup	NP_001341652.1:n.*18-3176dup
NM_198156.3:c.341-3176dup	NP_937799.1:n.341-3176dup