Canonical Allele Identifier: CA1345068530

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144257_10144261delinsAGGAG , CM000665.2:g.10144257_10144261delinsAGGAG	GRCh38
NC_000003.11:g.10185941_10185945delinsAGGAG , CM000665.1:g.10185941_10185945delinsAGGAG	GRCh37
NC_000003.10:g.10160941_10160945delinsAGGAG	NCBI36
NG_008212.3:g.7623_7627delinsAGGAG , LRG_322:g.7623_7627delinsAGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1236_*17+1240delinsAGGAG	ENSP00000512434.1:n.*17+1236_*17+1240delinsAGGAG
ENST00000696143.1:c.599+1236_599+1240delinsAGGAG	ENSP00000512435.1:n.599+1236_599+1240delinsAGGAG
ENST00000696153.1:c.340+2070_340+2074delinsAGGAG	ENSP00000512444.1:n.340+2070_340+2074delinsAGGAG
ENST00000256474.3:c.340+2070_340+2074delinsAGGAG MANE Select	ENSP00000256474.3:n.340+2070_340+2074delinsAGGAG
ENST00000256474.2:c.340+2070_340+2074delinsAGGAG	ENSP00000256474.2:n.340+2070_340+2074delinsAGGAG
ENST00000345392.2:c.340+2070_340+2074delinsAGGAG	ENSP00000344757.2:n.340+2070_340+2074delinsAGGAG
ENST00000477538.1:n.476+1236_476+1240delinsAGGAG
NM_000551.3:c.340+2070_340+2074delinsAGGAG , LRG_322t1:c.340+2070_340+2074delinsAGGAG	NP_000542.1:n.340+2070_340+2074delinsAGGAG
NM_198156.2:c.340+2070_340+2074delinsAGGAG	NP_937799.1:n.340+2070_340+2074delinsAGGAG
XM_011534078.1:c.*17+1236_*17+1240delinsAGGAG	XP_011532380.1:n.*17+1236_*17+1240delinsAGGAG
NM_001354723.1:c.*17+1236_*17+1240delinsAGGAG	NP_001341652.1:n.*17+1236_*17+1240delinsAGGAG
NM_000551.4:c.340+2070_340+2074delinsAGGAG MANE Select	NP_000542.1:n.340+2070_340+2074delinsAGGAG
NM_001354723.2:c.*17+1236_*17+1240delinsAGGAG	NP_001341652.1:n.*17+1236_*17+1240delinsAGGAG
NM_198156.3:c.340+2070_340+2074delinsAGGAG	NP_937799.1:n.340+2070_340+2074delinsAGGAG