Canonical Allele Identifier: CA432423283

Gene: VHL

Linked Data

• COSMIC: COSM17770 ; COSM27567
• MyVariant Identifiers: chr3:g.10191508del (hg19) ; chr3:g.10191507del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149824del , CM000665.2:g.10149824del	GRCh38
NC_000003.11:g.10191508del , CM000665.1:g.10191508del	GRCh37
NC_000003.10:g.10166508del	NCBI36
NG_008212.3:g.13190del , LRG_322:g.13190del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*178del	ENSP00000512434.1:n.*178del
ENST00000696143.1:c.637del	ENSP00000512435.1:n.637del
ENST00000696153.1:c.612del	ENSP00000512444.1:p.Ser205AlafsTer2
ENST00000256474.3:c.501del MANE Select	ENSP00000256474.3:p.Ser168AlafsTer2
ENST00000256474.2:c.501del	ENSP00000256474.2:p.Ser168AlafsTer2
ENST00000345392.2:c.378del	ENSP00000344757.2:p.Ser127AlafsTer2
ENST00000477538.1:n.637del
NM_000551.3:c.501del , LRG_322t1:c.501del	NP_000542.1:p.Ser168AlafsTer2
NM_198156.2:c.378del	NP_937799.1:p.Ser127AlafsTer2
NM_001354723.1:c.*55del	NP_001341652.1:n.*55del
NM_000551.4:c.501del MANE Select	NP_000542.1:p.Ser168AlafsTer2
NM_001354723.2:c.*55del	NP_001341652.1:n.*55del
NM_198156.3:c.378del	NP_937799.1:p.Ser127AlafsTer2