Canonical Allele Identifier: CA1345064964

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141886_10141891delinsAGGCGC , CM000665.2:g.10141886_10141891delinsAGGCGC	GRCh38
NC_000003.11:g.10183570_10183575delinsAGGCGC , CM000665.1:g.10183570_10183575delinsAGGCGC	GRCh37
NC_000003.10:g.10158570_10158575delinsAGGCGC	NCBI36
NG_008212.3:g.5252_5257delinsAGGCGC , LRG_322:g.5252_5257delinsAGGCGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.39_44delinsAGGCGC	ENSP00000512434.1:p.Val13=
ENST00000696143.1:c.39_44delinsAGGCGC	ENSP00000512435.1:p.Val13=
ENST00000696153.1:c.39_44delinsAGGCGC	ENSP00000512444.1:p.Val13=
ENST00000256474.3:c.39_44delinsAGGCGC MANE Select	ENSP00000256474.3:p.Val13=
ENST00000256474.2:c.39_44delinsAGGCGC	ENSP00000256474.2:p.Val13=
ENST00000345392.2:c.39_44delinsAGGCGC	ENSP00000344757.2:p.Val13=
NM_000551.3:c.39_44delinsAGGCGC , LRG_322t1:c.39_44delinsAGGCGC	NP_000542.1:p.Val13=
NM_198156.2:c.39_44delinsAGGCGC	NP_937799.1:p.Val13=
XM_011534078.1:c.39_44delinsAGGCGC	XP_011532380.1:p.Val13=
NM_001354723.1:c.39_44delinsAGGCGC	NP_001341652.1:p.Val13=
NM_000551.4:c.39_44delinsAGGCGC MANE Select	NP_000542.1:p.Val13=
NM_001354723.2:c.39_44delinsAGGCGC	NP_001341652.1:p.Val13=
NM_198156.3:c.39_44delinsAGGCGC	NP_937799.1:p.Val13=