Canonical Allele Identifier: CA1139768927

Gene: VHL

Linked Data

• ClinVar Variation Id: 1723891
• ClinVar RCV Id: RCV002306446
• CIViC: CA1139768927

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142069_10142072dup , CM000665.2:g.10142069_10142072dup	GRCh38
NC_000003.11:g.10183753_10183756dup , CM000665.1:g.10183753_10183756dup	GRCh37
NC_000003.10:g.10158753_10158756dup	NCBI36
NG_008212.3:g.5435_5438dup , LRG_322:g.5435_5438dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.222_225dup	ENSP00000512434.1:p.Phe76HisfsTer?
ENST00000696143.1:c.222_225dup	ENSP00000512435.1:p.Phe76HisfsTer?
ENST00000696153.1:c.222_225dup	ENSP00000512444.1:p.Phe76HisfsTer?
ENST00000256474.3:c.222_225dup MANE Select	ENSP00000256474.3:p.Phe76HisfsTer?
ENST00000256474.2:c.222_225dup	ENSP00000256474.2:p.Phe76HisfsTer?
ENST00000345392.2:c.222_225dup	ENSP00000344757.2:p.Phe76HisfsTer?
NM_000551.3:c.222_225dup , LRG_322t1:c.222_225dup	NP_000542.1:p.Phe76HisfsTer?
NM_198156.2:c.222_225dup	NP_937799.1:p.Phe76HisfsTer?
XM_011534078.1:c.222_225dup	XP_011532380.1:p.Phe76HisfsTer?
NM_001354723.1:c.222_225dup	NP_001341652.1:p.Phe76HisfsTer?
NM_000551.4:c.222_225dup MANE Select	NP_000542.1:p.Phe76HisfsTer?
NM_001354723.2:c.222_225dup	NP_001341652.1:p.Phe76HisfsTer?
NM_198156.3:c.222_225dup	NP_937799.1:p.Phe76HisfsTer?