Canonical Allele Identifier: CA432420649

Gene: VHL

Linked Data

• COSMIC: COSM17744
• MyVariant Identifiers: chr3:g.10183862del (hg19)
• CIViC: CA432420649

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142178del , CM000665.2:g.10142178del	GRCh38
NC_000003.11:g.10183862del , CM000665.1:g.10183862del	GRCh37
NC_000003.10:g.10158862del	NCBI36
NG_008212.3:g.5544del , LRG_322:g.5544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.331del	ENSP00000512434.1:p.Ser111AlafsTer6
ENST00000696143.1:c.331del	ENSP00000512435.1:p.Ser111AlafsTer6
ENST00000696153.1:c.331del	ENSP00000512444.1:p.Ser111AlafsTer?
ENST00000256474.3:c.331del MANE Select	ENSP00000256474.3:p.Ser111AlafsTer?
ENST00000256474.2:c.331del	ENSP00000256474.2:p.Ser111AlafsTer?
ENST00000345392.2:c.331del	ENSP00000344757.2:p.Ser111AlafsTer7
NM_000551.3:c.331del , LRG_322t1:c.331del	NP_000542.1:p.Ser111AlafsTer?
NM_198156.2:c.331del	NP_937799.1:p.Ser111AlafsTer7
XM_011534078.1:c.331del	XP_011532380.1:p.Ser111AlafsTer6
NM_001354723.1:c.331del	NP_001341652.1:p.Ser111AlafsTer6
NM_000551.4:c.331del MANE Select	NP_000542.1:p.Ser111AlafsTer?
NM_001354723.2:c.331del	NP_001341652.1:p.Ser111AlafsTer6
NM_198156.3:c.331del	NP_937799.1:p.Ser111AlafsTer7