Canonical Allele Identifier: CA2739292377

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146549_10146555del , CM000665.2:g.10146549_10146555del	GRCh38
NC_000003.11:g.10188233_10188239del , CM000665.1:g.10188233_10188239del	GRCh37
NC_000003.10:g.10163233_10163239del	NCBI36
NG_008212.3:g.9915_9921del , LRG_322:g.9915_9921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*53_*59del	ENSP00000512434.1:n.*53_*59del
ENST00000696143.1:c.600-3238_600-3232del	ENSP00000512435.1:n.600-3238_600-3232del
ENST00000696153.1:c.376_382del	ENSP00000512444.1:p.Asp126PhefsTer?
ENST00000256474.3:c.376_382del MANE Select	ENSP00000256474.3:p.Asp126PhefsTer?
ENST00000256474.2:c.376_382del	ENSP00000256474.2:p.Asp126PhefsTer?
ENST00000345392.2:c.341-3238_341-3232del	ENSP00000344757.2:n.341-3238_341-3232del
ENST00000477538.1:n.512_518del
NM_000551.3:c.376_382del , LRG_322t1:c.376_382del	NP_000542.1:p.Asp126PhefsTer?
NM_198156.2:c.341-3238_341-3232del	NP_937799.1:n.341-3238_341-3232del
XM_011534078.1:c.*53_*59del	XP_011532380.1:n.*53_*59del
NM_001354723.1:c.*18-3238_*18-3232del	NP_001341652.1:n.*18-3238_*18-3232del
NM_000551.4:c.376_382del MANE Select	NP_000542.1:p.Asp126PhefsTer?
NM_001354723.2:c.*18-3238_*18-3232del	NP_001341652.1:n.*18-3238_*18-3232del
NM_198156.3:c.341-3238_341-3232del	NP_937799.1:n.341-3238_341-3232del