Canonical Allele Identifier: CA432420609

Gene: VHL

Linked Data

• COSMIC: COSM17741
• MyVariant Identifiers: chr3:g.10183855del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142171del , CM000665.2:g.10142171del	GRCh38
NC_000003.11:g.10183855del , CM000665.1:g.10183855del	GRCh37
NC_000003.10:g.10158855del	NCBI36
NG_008212.3:g.5537del , LRG_322:g.5537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.324del	ENSP00000512434.1:p.Ile109SerfsTer8
ENST00000696143.1:c.324del	ENSP00000512435.1:p.Ile109SerfsTer8
ENST00000696153.1:c.324del	ENSP00000512444.1:p.Ile109SerfsTer?
ENST00000256474.3:c.324del MANE Select	ENSP00000256474.3:p.Ile109SerfsTer?
ENST00000256474.2:c.324del	ENSP00000256474.2:p.Ile109SerfsTer?
ENST00000345392.2:c.324del	ENSP00000344757.2:p.Ile109SerfsTer9
NM_000551.3:c.324del , LRG_322t1:c.324del	NP_000542.1:p.Ile109SerfsTer?
NM_198156.2:c.324del	NP_937799.1:p.Ile109SerfsTer9
XM_011534078.1:c.324del	XP_011532380.1:p.Ile109SerfsTer8
NM_001354723.1:c.324del	NP_001341652.1:p.Ile109SerfsTer8
NM_000551.4:c.324del MANE Select	NP_000542.1:p.Ile109SerfsTer?
NM_001354723.2:c.324del	NP_001341652.1:p.Ile109SerfsTer8
NM_198156.3:c.324del	NP_937799.1:p.Ile109SerfsTer9