Canonical Allele Identifier: CA2573131810

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146608_10146609insGG , CM000665.2:g.10146608_10146609insGG	GRCh38
NC_000003.11:g.10188292_10188293insGG , CM000665.1:g.10188292_10188293insGG	GRCh37
NC_000003.10:g.10163292_10163293insGG	NCBI36
NG_008212.3:g.9974_9975insGG , LRG_322:g.9974_9975insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*112_*113insGG	ENSP00000512434.1:n.*112_*113insGG
ENST00000696143.1:c.600-3179_600-3178insGG	ENSP00000512435.1:n.600-3179_600-3178insGG
ENST00000696153.1:c.435_436insGG	ENSP00000512444.1:p.Pro146GlyfsTer24
ENST00000256474.3:c.435_436insGG MANE Select	ENSP00000256474.3:p.Pro146GlyfsTer14
ENST00000256474.2:c.435_436insGG	ENSP00000256474.2:p.Pro146GlyfsTer14
ENST00000345392.2:c.341-3179_341-3178insGG	ENSP00000344757.2:n.341-3179_341-3178insGG
ENST00000477538.1:n.571_572insGG
NM_000551.3:c.435_436insGG , LRG_322t1:c.435_436insGG	NP_000542.1:p.Pro146GlyfsTer14
NM_198156.2:c.341-3179_341-3178insGG	NP_937799.1:n.341-3179_341-3178insGG
NM_001354723.1:c.*18-3179_*18-3178insGG	NP_001341652.1:n.*18-3179_*18-3178insGG
NM_000551.4:c.435_436insGG MANE Select	NP_000542.1:p.Pro146GlyfsTer14
NM_001354723.2:c.*18-3179_*18-3178insGG	NP_001341652.1:n.*18-3179_*18-3178insGG
NM_198156.3:c.341-3179_341-3178insGG	NP_937799.1:n.341-3179_341-3178insGG