Canonical Allele Identifier: CA645525044

Gene: VHL

Linked Data

• COSMIC: COSM36345

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149796_10149821dup , CM000665.2:g.10149796_10149821dup	GRCh38
NC_000003.11:g.10191480_10191505dup , CM000665.1:g.10191480_10191505dup	GRCh37
NC_000003.10:g.10166480_10166505dup	NCBI36
NG_008212.3:g.13162_13187dup , LRG_322:g.13162_13187dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*150_*175dup	ENSP00000512434.1:n.*150_*175dup
ENST00000696143.1:c.609_634dup	ENSP00000512435.1:n.609_634dup
ENST00000696153.1:c.584_609dup	ENSP00000512444.1:p.Arg204Ter
ENST00000256474.3:c.473_498dup MANE Select	ENSP00000256474.3:p.Arg167Ter
ENST00000256474.2:c.473_498dup	ENSP00000256474.2:p.Arg167Ter
ENST00000345392.2:c.350_375dup	ENSP00000344757.2:p.Arg126Ter
ENST00000477538.1:n.609_634dup
NM_000551.3:c.473_498dup , LRG_322t1:c.473_498dup	NP_000542.1:p.Arg167Ter
NM_198156.2:c.350_375dup	NP_937799.1:p.Arg126Ter
NM_001354723.1:c.*27_*52dup	NP_001341652.1:n.*27_*52dup
NM_000551.4:c.473_498dup MANE Select	NP_000542.1:p.Arg167Ter
NM_001354723.2:c.*27_*52dup	NP_001341652.1:n.*27_*52dup
NM_198156.3:c.350_375dup	NP_937799.1:p.Arg126Ter