Canonical Allele Identifier: CA647437436

Gene: VHL

Linked Data

• COSMIC: COSN19123797

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10151658_10151659insA , CM000665.2:g.10151658_10151659insA	GRCh38
NC_000003.11:g.10193342_10193343insA , CM000665.1:g.10193342_10193343insA	GRCh37
NC_000003.10:g.10168342_10168343insA	NCBI36
NG_008212.3:g.15024_15025insA , LRG_322:g.15024_15025insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*2012_*2013insA	ENSP00000512434.1:n.*2012_*2013insA
ENST00000696143.1:c.2471_2472insA	ENSP00000512435.1:n.2471_2472insA
ENST00000696153.1:c.*1693_*1694insA	ENSP00000512444.1:n.*1693_*1694insA
ENST00000256474.3:c.*1693_*1694insA MANE Select	ENSP00000256474.3:n.*1693_*1694insA
ENST00000256474.2:c.*1693_*1694insA	ENSP00000256474.2:n.*1693_*1694insA
ENST00000345392.2:c.*1693_*1694insA	ENSP00000344757.2:n.*1693_*1694insA
NM_000551.3:c.*1693_*1694insA , LRG_322t1:c.*1693_*1694insA	NP_000542.1:n.*1693_*1694insA
NM_198156.2:c.*1693_*1694insA	NP_937799.1:n.*1693_*1694insA
NM_001354723.1:c.*1889_*1890insA	NP_001341652.1:n.*1889_*1890insA
NM_000551.4:c.*1693_*1694insA MANE Select	NP_000542.1:n.*1693_*1694insA
NM_001354723.2:c.*1889_*1890insA	NP_001341652.1:n.*1889_*1890insA
NM_198156.3:c.*1693_*1694insA	NP_937799.1:n.*1693_*1694insA