Canonical Allele Identifier: CA645524956

Gene: VHL

Linked Data

• COSMIC: COSM253370

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146589_10146590insCC , CM000665.2:g.10146589_10146590insCC	GRCh38
NC_000003.11:g.10188273_10188274insCC , CM000665.1:g.10188273_10188274insCC	GRCh37
NC_000003.10:g.10163273_10163274insCC	NCBI36
NG_008212.3:g.9955_9956insCC , LRG_322:g.9955_9956insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*93_*94insCC	ENSP00000512434.1:n.*93_*94insCC
ENST00000696143.1:c.600-3198_600-3197insCC	ENSP00000512435.1:n.600-3198_600-3197insCC
ENST00000696153.1:c.416_417insCC	ENSP00000512444.1:p.Asn141SerfsTer29
ENST00000256474.3:c.416_417insCC MANE Select	ENSP00000256474.3:p.Asn141SerfsTer19
ENST00000256474.2:c.416_417insCC	ENSP00000256474.2:p.Asn141SerfsTer19
ENST00000345392.2:c.341-3198_341-3197insCC	ENSP00000344757.2:n.341-3198_341-3197insCC
ENST00000477538.1:n.552_553insCC
NM_000551.3:c.416_417insCC , LRG_322t1:c.416_417insCC	NP_000542.1:p.Asn141SerfsTer19
NM_198156.2:c.341-3198_341-3197insCC	NP_937799.1:n.341-3198_341-3197insCC
XM_011534078.1:c.*93_*94insCC	XP_011532380.1:n.*93_*94insCC
NM_001354723.1:c.*18-3198_*18-3197insCC	NP_001341652.1:n.*18-3198_*18-3197insCC
NM_000551.4:c.416_417insCC MANE Select	NP_000542.1:p.Asn141SerfsTer19
NM_001354723.2:c.*18-3198_*18-3197insCC	NP_001341652.1:n.*18-3198_*18-3197insCC
NM_198156.3:c.341-3198_341-3197insCC	NP_937799.1:n.341-3198_341-3197insCC