Canonical Allele Identifier: CA1345068768

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144684_10144690delinsTTTTTTA , CM000665.2:g.10144684_10144690delinsTTTTTTA	GRCh38
NC_000003.11:g.10186368_10186374delinsTTTTTTA , CM000665.1:g.10186368_10186374delinsTTTTTTA	GRCh37
NC_000003.10:g.10161368_10161374delinsTTTTTTA	NCBI36
NG_008212.3:g.8050_8056delinsTTTTTTA , LRG_322:g.8050_8056delinsTTTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1663_*17+1669delinsTTTTTTA	ENSP00000512434.1:n.*17+1663_*17+1669delinsTTTTTTA
ENST00000696143.1:c.599+1663_599+1669delinsTTTTTTA	ENSP00000512435.1:n.599+1663_599+1669delinsTTTTTTA
ENST00000696153.1:c.341-1830_341-1824delinsTTTTTTA	ENSP00000512444.1:n.341-1830_341-1824delinsTTTTTTA
ENST00000256474.3:c.341-1830_341-1824delinsTTTTTTA MANE Select	ENSP00000256474.3:n.341-1830_341-1824delinsTTTTTTA
ENST00000256474.2:c.341-1830_341-1824delinsTTTTTTA	ENSP00000256474.2:n.341-1830_341-1824delinsTTTTTTA
ENST00000345392.2:c.340+2497_340+2503delinsTTTTTTA	ENSP00000344757.2:n.340+2497_340+2503delinsTTTTTTA
ENST00000477538.1:n.476+1663_476+1669delinsTTTTTTA
NM_000551.3:c.341-1830_341-1824delinsTTTTTTA , LRG_322t1:c.341-1830_341-1824delinsTTTTTTA	NP_000542.1:n.341-1830_341-1824delinsTTTTTTA
NM_198156.2:c.340+2497_340+2503delinsTTTTTTA	NP_937799.1:n.340+2497_340+2503delinsTTTTTTA
XM_011534078.1:c.*17+1663_*17+1669delinsTTTTTTA	XP_011532380.1:n.*17+1663_*17+1669delinsTTTTTTA
NM_001354723.1:c.*17+1663_*17+1669delinsTTTTTTA	NP_001341652.1:n.*17+1663_*17+1669delinsTTTTTTA
NM_000551.4:c.341-1830_341-1824delinsTTTTTTA MANE Select	NP_000542.1:n.341-1830_341-1824delinsTTTTTTA
NM_001354723.2:c.*17+1663_*17+1669delinsTTTTTTA	NP_001341652.1:n.*17+1663_*17+1669delinsTTTTTTA
NM_198156.3:c.340+2497_340+2503delinsTTTTTTA	NP_937799.1:n.340+2497_340+2503delinsTTTTTTA