Canonical Allele Identifier: CA2755195532

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152515_10152516dup , CM000665.2:g.10152515_10152516dup	GRCh38
NC_000003.11:g.10194199_10194200dup , CM000665.1:g.10194199_10194200dup	GRCh37
NC_000003.10:g.10169199_10169200dup	NCBI36
NG_008212.3:g.15881_15882dup , LRG_322:g.15881_15882dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2550_*2551dup	ENSP00000512444.1:n.*2550_*2551dup
ENST00000256474.3:c.*2550_*2551dup MANE Select	ENSP00000256474.3:n.*2550_*2551dup
NM_000551.3:c.*2550_*2551dup , LRG_322t1:c.*2550_*2551dup	NP_000542.1:n.*2550_*2551dup
NM_198156.2:c.*2550_*2551dup	NP_937799.1:n.*2550_*2551dup
NM_001354723.1:c.*2746_*2747dup	NP_001341652.1:n.*2746_*2747dup
NM_000551.4:c.*2550_*2551dup MANE Select	NP_000542.1:n.*2550_*2551dup
NM_001354723.2:c.*2746_*2747dup	NP_001341652.1:n.*2746_*2747dup
NM_198156.3:c.*2550_*2551dup	NP_937799.1:n.*2550_*2551dup