Canonical Allele Identifier: CA432420518

Gene: VHL

Linked Data

• COSMIC: COSM17886 ; COSM18124
• MyVariant Identifiers: chr3:g.10183827del (hg19) ; chr3:g.10183825del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142143del , CM000665.2:g.10142143del	GRCh38
NC_000003.11:g.10183827del , CM000665.1:g.10183827del	GRCh37
NC_000003.10:g.10158827del	NCBI36
NG_008212.3:g.5509del , LRG_322:g.5509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.296del	ENSP00000512434.1:p.Pro99GlnfsTer18
ENST00000696143.1:c.296del	ENSP00000512435.1:p.Pro99GlnfsTer18
ENST00000696153.1:c.296del	ENSP00000512444.1:p.Pro99GlnfsTer?
ENST00000256474.3:c.296del MANE Select	ENSP00000256474.3:p.Pro99GlnfsTer?
ENST00000256474.2:c.296del	ENSP00000256474.2:p.Pro99GlnfsTer?
ENST00000345392.2:c.296del	ENSP00000344757.2:p.Pro99GlnfsTer19
NM_000551.3:c.296del , LRG_322t1:c.296del	NP_000542.1:p.Pro99GlnfsTer?
NM_198156.2:c.296del	NP_937799.1:p.Pro99GlnfsTer19
XM_011534078.1:c.296del	XP_011532380.1:p.Pro99GlnfsTer18
NM_001354723.1:c.296del	NP_001341652.1:p.Pro99GlnfsTer18
NM_000551.4:c.296del MANE Select	NP_000542.1:p.Pro99GlnfsTer?
NM_001354723.2:c.296del	NP_001341652.1:p.Pro99GlnfsTer18
NM_198156.3:c.296del	NP_937799.1:p.Pro99GlnfsTer19