Canonical Allele Identifier: CA2499307153

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146547dup , CM000665.2:g.10146547dup	GRCh38
NC_000003.11:g.10188231dup , CM000665.1:g.10188231dup	GRCh37
NC_000003.10:g.10163231dup	NCBI36
NG_008212.3:g.9913dup , LRG_322:g.9913dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*51dup	ENSP00000512434.1:n.*51dup
ENST00000696143.1:c.600-3240dup	ENSP00000512435.1:n.600-3240dup
ENST00000696153.1:c.374dup	ENSP00000512444.1:p.His125GlnfsTer7
ENST00000256474.3:c.374dup MANE Select	ENSP00000256474.3:p.His125GlnfsTer7
ENST00000256474.2:c.374dup	ENSP00000256474.2:p.His125GlnfsTer7
ENST00000345392.2:c.341-3240dup	ENSP00000344757.2:n.341-3240dup
ENST00000477538.1:n.510dup
NM_000551.3:c.374dup , LRG_322t1:c.374dup	NP_000542.1:p.His125GlnfsTer7
NM_198156.2:c.341-3240dup	NP_937799.1:n.341-3240dup
XM_011534078.1:c.*51dup	XP_011532380.1:n.*51dup
NM_001354723.1:c.*18-3240dup	NP_001341652.1:n.*18-3240dup
NM_000551.4:c.374dup MANE Select	NP_000542.1:p.His125GlnfsTer7
NM_001354723.2:c.*18-3240dup	NP_001341652.1:n.*18-3240dup
NM_198156.3:c.341-3240dup	NP_937799.1:n.341-3240dup