Canonical Allele Identifier: CA1345068708

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144554_10144568delinsAGGCTGGAGTTTGGT , CM000665.2:g.10144554_10144568delinsAGGCTGGAGTTTGGT	GRCh38
NC_000003.11:g.10186238_10186252delinsAGGCTGGAGTTTGGT , CM000665.1:g.10186238_10186252delinsAGGCTGGAGTTTGGT	GRCh37
NC_000003.10:g.10161238_10161252delinsAGGCTGGAGTTTGGT	NCBI36
NG_008212.3:g.7920_7934delinsAGGCTGGAGTTTGGT , LRG_322:g.7920_7934delinsAGGCTGGAGTTTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1533_*17+1547delinsAGGCTGGAGTTTGGT	ENSP00000512434.1:n.*17+1533_*17+1547delinsAGGCTGGAGTTTGGT
ENST00000696143.1:c.599+1533_599+1547delinsAGGCTGGAGTTTGGT	ENSP00000512435.1:n.599+1533_599+1547delinsAGGCTGGAGTTTGGT
ENST00000696153.1:c.341-1960_341-1946delinsAGGCTGGAGTTTGGT	ENSP00000512444.1:n.341-1960_341-1946delinsAGGCTGGAGTTTGGT
ENST00000256474.3:c.341-1960_341-1946delinsAGGCTGGAGTTTGGT MANE Select	ENSP00000256474.3:n.341-1960_341-1946delinsAGGCTGGAGTTTGGT
ENST00000256474.2:c.341-1960_341-1946delinsAGGCTGGAGTTTGGT	ENSP00000256474.2:n.341-1960_341-1946delinsAGGCTGGAGTTTGGT
ENST00000345392.2:c.340+2367_340+2381delinsAGGCTGGAGTTTGGT	ENSP00000344757.2:n.340+2367_340+2381delinsAGGCTGGAGTTTGGT
ENST00000477538.1:n.476+1533_476+1547delinsAGGCTGGAGTTTGGT
NM_000551.3:c.341-1960_341-1946delinsAGGCTGGAGTTTGGT , LRG_322t1:c.341-1960_341-1946delinsAGGCTGGAGTTTGGT	NP_000542.1:n.341-1960_341-1946delinsAGGCTGGAGTTTGGT
NM_198156.2:c.340+2367_340+2381delinsAGGCTGGAGTTTGGT	NP_937799.1:n.340+2367_340+2381delinsAGGCTGGAGTTTGGT
XM_011534078.1:c.*17+1533_*17+1547delinsAGGCTGGAGTTTGGT	XP_011532380.1:n.*17+1533_*17+1547delinsAGGCTGGAGTTTGGT
NM_001354723.1:c.*17+1533_*17+1547delinsAGGCTGGAGTTTGGT	NP_001341652.1:n.*17+1533_*17+1547delinsAGGCTGGAGTTTGGT
NM_000551.4:c.341-1960_341-1946delinsAGGCTGGAGTTTGGT MANE Select	NP_000542.1:n.341-1960_341-1946delinsAGGCTGGAGTTTGGT
NM_001354723.2:c.*17+1533_*17+1547delinsAGGCTGGAGTTTGGT	NP_001341652.1:n.*17+1533_*17+1547delinsAGGCTGGAGTTTGGT
NM_198156.3:c.340+2367_340+2381delinsAGGCTGGAGTTTGGT	NP_937799.1:n.340+2367_340+2381delinsAGGCTGGAGTTTGGT