Canonical Allele Identifier: CA2573106159

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149895dup , CM000665.2:g.10149895dup	GRCh38
NC_000003.11:g.10191579dup , CM000665.1:g.10191579dup	GRCh37
NC_000003.10:g.10166579dup	NCBI36
NG_008212.3:g.13261dup , LRG_322:g.13261dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*249dup	ENSP00000512434.1:n.*249dup
ENST00000696143.1:c.708dup	ENSP00000512435.1:n.708dup
ENST00000696153.1:c.683dup	ENSP00000512444.1:p.His228GlnfsTer?
ENST00000256474.3:c.572dup MANE Select	ENSP00000256474.3:p.His191GlnfsTer?
ENST00000256474.2:c.572dup	ENSP00000256474.2:p.His191GlnfsTer?
ENST00000345392.2:c.449dup	ENSP00000344757.2:p.His150GlnfsTer?
ENST00000477538.1:n.708dup
NM_000551.3:c.572dup , LRG_322t1:c.572dup	NP_000542.1:p.His191GlnfsTer?
NM_198156.2:c.449dup	NP_937799.1:p.His150GlnfsTer?
NM_001354723.1:c.*126dup	NP_001341652.1:n.*126dup
NM_000551.4:c.572dup MANE Select	NP_000542.1:p.His191GlnfsTer?
NM_001354723.2:c.*126dup	NP_001341652.1:n.*126dup
NM_198156.3:c.449dup	NP_937799.1:p.His150GlnfsTer?