Canonical Allele Identifier: CA1345068555

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144298_10144300delinsCTG , CM000665.2:g.10144298_10144300delinsCTG	GRCh38
NC_000003.11:g.10185982_10185984delinsCTG , CM000665.1:g.10185982_10185984delinsCTG	GRCh37
NC_000003.10:g.10160982_10160984delinsCTG	NCBI36
NG_008212.3:g.7664_7666delinsCTG , LRG_322:g.7664_7666delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1277_*17+1279delinsCTG	ENSP00000512434.1:n.*17+1277_*17+1279delinsCTG
ENST00000696143.1:c.599+1277_599+1279delinsCTG	ENSP00000512435.1:n.599+1277_599+1279delinsCTG
ENST00000696153.1:c.340+2111_340+2113delinsCTG	ENSP00000512444.1:n.340+2111_340+2113delinsCTG
ENST00000256474.3:c.340+2111_340+2113delinsCTG MANE Select	ENSP00000256474.3:n.340+2111_340+2113delinsCTG
ENST00000256474.2:c.340+2111_340+2113delinsCTG	ENSP00000256474.2:n.340+2111_340+2113delinsCTG
ENST00000345392.2:c.340+2111_340+2113delinsCTG	ENSP00000344757.2:n.340+2111_340+2113delinsCTG
ENST00000477538.1:n.476+1277_476+1279delinsCTG
NM_000551.3:c.340+2111_340+2113delinsCTG , LRG_322t1:c.340+2111_340+2113delinsCTG	NP_000542.1:n.340+2111_340+2113delinsCTG
NM_198156.2:c.340+2111_340+2113delinsCTG	NP_937799.1:n.340+2111_340+2113delinsCTG
XM_011534078.1:c.*17+1277_*17+1279delinsCTG	XP_011532380.1:n.*17+1277_*17+1279delinsCTG
NM_001354723.1:c.*17+1277_*17+1279delinsCTG	NP_001341652.1:n.*17+1277_*17+1279delinsCTG
NM_000551.4:c.340+2111_340+2113delinsCTG MANE Select	NP_000542.1:n.340+2111_340+2113delinsCTG
NM_001354723.2:c.*17+1277_*17+1279delinsCTG	NP_001341652.1:n.*17+1277_*17+1279delinsCTG
NM_198156.3:c.340+2111_340+2113delinsCTG	NP_937799.1:n.340+2111_340+2113delinsCTG