Canonical Allele Identifier: CA645529549

Gene: VHL

Linked Data

• COSMIC: COSM17986

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149883_10149903del , CM000665.2:g.10149883_10149903del	GRCh38
NC_000003.11:g.10191567_10191587del , CM000665.1:g.10191567_10191587del	GRCh37
NC_000003.10:g.10166567_10166587del	NCBI36
NG_008212.3:g.13249_13269del , LRG_322:g.13249_13269del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*237_*257del	ENSP00000512434.1:n.*237_*257del
ENST00000696143.1:c.696_716del	ENSP00000512435.1:n.696_716del
ENST00000696153.1:c.671_691del	ENSP00000512444.1:p.Asp224_Asn230del
ENST00000256474.3:c.560_580del MANE Select	ENSP00000256474.3:p.Asp187_Asn193del
ENST00000256474.2:c.560_580del	ENSP00000256474.2:p.Asp187_Asn193del
ENST00000345392.2:c.437_457del	ENSP00000344757.2:p.Asp146_Asn152del
ENST00000477538.1:n.696_716del
NM_000551.3:c.560_580del , LRG_322t1:c.560_580del	NP_000542.1:p.Asp187_Asn193del
NM_198156.2:c.437_457del	NP_937799.1:p.Asp146_Asn152del
NM_001354723.1:c.*114_*134del	NP_001341652.1:n.*114_*134del
NM_000551.4:c.560_580del MANE Select	NP_000542.1:p.Asp187_Asn193del
NM_001354723.2:c.*114_*134del	NP_001341652.1:n.*114_*134del
NM_198156.3:c.437_457del	NP_937799.1:p.Asp146_Asn152del