Canonical Allele Identifier: CA1345068518

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144237_10144240delinsCAGG , CM000665.2:g.10144237_10144240delinsCAGG	GRCh38
NC_000003.11:g.10185921_10185924delinsCAGG , CM000665.1:g.10185921_10185924delinsCAGG	GRCh37
NC_000003.10:g.10160921_10160924delinsCAGG	NCBI36
NG_008212.3:g.7603_7606delinsCAGG , LRG_322:g.7603_7606delinsCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1216_*17+1219delinsCAGG	ENSP00000512434.1:n.*17+1216_*17+1219delinsCAGG
ENST00000696143.1:c.599+1216_599+1219delinsCAGG	ENSP00000512435.1:n.599+1216_599+1219delinsCAGG
ENST00000696153.1:c.340+2050_340+2053delinsCAGG	ENSP00000512444.1:n.340+2050_340+2053delinsCAGG
ENST00000256474.3:c.340+2050_340+2053delinsCAGG MANE Select	ENSP00000256474.3:n.340+2050_340+2053delinsCAGG
ENST00000256474.2:c.340+2050_340+2053delinsCAGG	ENSP00000256474.2:n.340+2050_340+2053delinsCAGG
ENST00000345392.2:c.340+2050_340+2053delinsCAGG	ENSP00000344757.2:n.340+2050_340+2053delinsCAGG
ENST00000477538.1:n.476+1216_476+1219delinsCAGG
NM_000551.3:c.340+2050_340+2053delinsCAGG , LRG_322t1:c.340+2050_340+2053delinsCAGG	NP_000542.1:n.340+2050_340+2053delinsCAGG
NM_198156.2:c.340+2050_340+2053delinsCAGG	NP_937799.1:n.340+2050_340+2053delinsCAGG
XM_011534078.1:c.*17+1216_*17+1219delinsCAGG	XP_011532380.1:n.*17+1216_*17+1219delinsCAGG
NM_001354723.1:c.*17+1216_*17+1219delinsCAGG	NP_001341652.1:n.*17+1216_*17+1219delinsCAGG
NM_000551.4:c.340+2050_340+2053delinsCAGG MANE Select	NP_000542.1:n.340+2050_340+2053delinsCAGG
NM_001354723.2:c.*17+1216_*17+1219delinsCAGG	NP_001341652.1:n.*17+1216_*17+1219delinsCAGG
NM_198156.3:c.340+2050_340+2053delinsCAGG	NP_937799.1:n.340+2050_340+2053delinsCAGG