Canonical Allele Identifier: CA645524748

Gene: VHL

Linked Data

• COSMIC: COSM17950

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142083_10142084delinsCA , CM000665.2:g.10142083_10142084delinsCA	GRCh38
NC_000003.11:g.10183767_10183768delinsCA , CM000665.1:g.10183767_10183768delinsCA	GRCh37
NC_000003.10:g.10158767_10158768delinsCA	NCBI36
NG_008212.3:g.5449_5450delinsCA , LRG_322:g.5449_5450delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.236_237delinsCA	ENSP00000512434.1:p.Arg79Pro
ENST00000696143.1:c.236_237delinsCA	ENSP00000512435.1:p.Arg79Pro
ENST00000696153.1:c.236_237delinsCA	ENSP00000512444.1:p.Arg79Pro
ENST00000256474.3:c.236_237delinsCA MANE Select	ENSP00000256474.3:p.Arg79Pro
ENST00000256474.2:c.236_237delinsCA	ENSP00000256474.2:p.Arg79Pro
ENST00000345392.2:c.236_237delinsCA	ENSP00000344757.2:p.Arg79Pro
NM_000551.3:c.236_237delinsCA , LRG_322t1:c.236_237delinsCA	NP_000542.1:p.Arg79Pro
NM_198156.2:c.236_237delinsCA	NP_937799.1:p.Arg79Pro
XM_011534078.1:c.236_237delinsCA	XP_011532380.1:p.Arg79Pro
NM_001354723.1:c.236_237delinsCA	NP_001341652.1:p.Arg79Pro
NM_000551.4:c.236_237delinsCA MANE Select	NP_000542.1:p.Arg79Pro
NM_001354723.2:c.236_237delinsCA	NP_001341652.1:p.Arg79Pro
NM_198156.3:c.236_237delinsCA	NP_937799.1:p.Arg79Pro