Canonical Allele Identifier: CA1345068561

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144305_10144306delinsTA , CM000665.2:g.10144305_10144306delinsTA	GRCh38
NC_000003.11:g.10185989_10185990delinsTA , CM000665.1:g.10185989_10185990delinsTA	GRCh37
NC_000003.10:g.10160989_10160990delinsTA	NCBI36
NG_008212.3:g.7671_7672delinsTA , LRG_322:g.7671_7672delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1284_*17+1285delinsTA	ENSP00000512434.1:n.*17+1284_*17+1285delinsTA
ENST00000696143.1:c.599+1284_599+1285delinsTA	ENSP00000512435.1:n.599+1284_599+1285delinsTA
ENST00000696153.1:c.340+2118_340+2119delinsTA	ENSP00000512444.1:n.340+2118_340+2119delinsTA
ENST00000256474.3:c.340+2118_340+2119delinsTA MANE Select	ENSP00000256474.3:n.340+2118_340+2119delinsTA
ENST00000256474.2:c.340+2118_340+2119delinsTA	ENSP00000256474.2:n.340+2118_340+2119delinsTA
ENST00000345392.2:c.340+2118_340+2119delinsTA	ENSP00000344757.2:n.340+2118_340+2119delinsTA
ENST00000477538.1:n.476+1284_476+1285delinsTA
NM_000551.3:c.340+2118_340+2119delinsTA , LRG_322t1:c.340+2118_340+2119delinsTA	NP_000542.1:n.340+2118_340+2119delinsTA
NM_198156.2:c.340+2118_340+2119delinsTA	NP_937799.1:n.340+2118_340+2119delinsTA
XM_011534078.1:c.*17+1284_*17+1285delinsTA	XP_011532380.1:n.*17+1284_*17+1285delinsTA
NM_001354723.1:c.*17+1284_*17+1285delinsTA	NP_001341652.1:n.*17+1284_*17+1285delinsTA
NM_000551.4:c.340+2118_340+2119delinsTA MANE Select	NP_000542.1:n.340+2118_340+2119delinsTA
NM_001354723.2:c.*17+1284_*17+1285delinsTA	NP_001341652.1:n.*17+1284_*17+1285delinsTA
NM_198156.3:c.340+2118_340+2119delinsTA	NP_937799.1:n.340+2118_340+2119delinsTA