Canonical Allele Identifier: CA1345068549

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144284_10144288delinsTAGTG , CM000665.2:g.10144284_10144288delinsTAGTG	GRCh38
NC_000003.11:g.10185968_10185972delinsTAGTG , CM000665.1:g.10185968_10185972delinsTAGTG	GRCh37
NC_000003.10:g.10160968_10160972delinsTAGTG	NCBI36
NG_008212.3:g.7650_7654delinsTAGTG , LRG_322:g.7650_7654delinsTAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1263_*17+1267delinsTAGTG	ENSP00000512434.1:n.*17+1263_*17+1267delinsTAGTG
ENST00000696143.1:c.599+1263_599+1267delinsTAGTG	ENSP00000512435.1:n.599+1263_599+1267delinsTAGTG
ENST00000696153.1:c.340+2097_340+2101delinsTAGTG	ENSP00000512444.1:n.340+2097_340+2101delinsTAGTG
ENST00000256474.3:c.340+2097_340+2101delinsTAGTG MANE Select	ENSP00000256474.3:n.340+2097_340+2101delinsTAGTG
ENST00000256474.2:c.340+2097_340+2101delinsTAGTG	ENSP00000256474.2:n.340+2097_340+2101delinsTAGTG
ENST00000345392.2:c.340+2097_340+2101delinsTAGTG	ENSP00000344757.2:n.340+2097_340+2101delinsTAGTG
ENST00000477538.1:n.476+1263_476+1267delinsTAGTG
NM_000551.3:c.340+2097_340+2101delinsTAGTG , LRG_322t1:c.340+2097_340+2101delinsTAGTG	NP_000542.1:n.340+2097_340+2101delinsTAGTG
NM_198156.2:c.340+2097_340+2101delinsTAGTG	NP_937799.1:n.340+2097_340+2101delinsTAGTG
XM_011534078.1:c.*17+1263_*17+1267delinsTAGTG	XP_011532380.1:n.*17+1263_*17+1267delinsTAGTG
NM_001354723.1:c.*17+1263_*17+1267delinsTAGTG	NP_001341652.1:n.*17+1263_*17+1267delinsTAGTG
NM_000551.4:c.340+2097_340+2101delinsTAGTG MANE Select	NP_000542.1:n.340+2097_340+2101delinsTAGTG
NM_001354723.2:c.*17+1263_*17+1267delinsTAGTG	NP_001341652.1:n.*17+1263_*17+1267delinsTAGTG
NM_198156.3:c.340+2097_340+2101delinsTAGTG	NP_937799.1:n.340+2097_340+2101delinsTAGTG