Canonical Allele Identifier: CA1345068581

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144332_10144335delinsTAGC , CM000665.2:g.10144332_10144335delinsTAGC	GRCh38
NC_000003.11:g.10186016_10186019delinsTAGC , CM000665.1:g.10186016_10186019delinsTAGC	GRCh37
NC_000003.10:g.10161016_10161019delinsTAGC	NCBI36
NG_008212.3:g.7698_7701delinsTAGC , LRG_322:g.7698_7701delinsTAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1311_*17+1314delinsTAGC	ENSP00000512434.1:n.*17+1311_*17+1314delinsTAGC
ENST00000696143.1:c.599+1311_599+1314delinsTAGC	ENSP00000512435.1:n.599+1311_599+1314delinsTAGC
ENST00000696153.1:c.340+2145_340+2148delinsTAGC	ENSP00000512444.1:n.340+2145_340+2148delinsTAGC
ENST00000256474.3:c.340+2145_340+2148delinsTAGC MANE Select	ENSP00000256474.3:n.340+2145_340+2148delinsTAGC
ENST00000256474.2:c.340+2145_340+2148delinsTAGC	ENSP00000256474.2:n.340+2145_340+2148delinsTAGC
ENST00000345392.2:c.340+2145_340+2148delinsTAGC	ENSP00000344757.2:n.340+2145_340+2148delinsTAGC
ENST00000477538.1:n.476+1311_476+1314delinsTAGC
NM_000551.3:c.340+2145_340+2148delinsTAGC , LRG_322t1:c.340+2145_340+2148delinsTAGC	NP_000542.1:n.340+2145_340+2148delinsTAGC
NM_198156.2:c.340+2145_340+2148delinsTAGC	NP_937799.1:n.340+2145_340+2148delinsTAGC
XM_011534078.1:c.*17+1311_*17+1314delinsTAGC	XP_011532380.1:n.*17+1311_*17+1314delinsTAGC
NM_001354723.1:c.*17+1311_*17+1314delinsTAGC	NP_001341652.1:n.*17+1311_*17+1314delinsTAGC
NM_000551.4:c.340+2145_340+2148delinsTAGC MANE Select	NP_000542.1:n.340+2145_340+2148delinsTAGC
NM_001354723.2:c.*17+1311_*17+1314delinsTAGC	NP_001341652.1:n.*17+1311_*17+1314delinsTAGC
NM_198156.3:c.340+2145_340+2148delinsTAGC	NP_937799.1:n.340+2145_340+2148delinsTAGC