Canonical Allele Identifier: CA645524796

Gene: VHL

Linked Data

• COSMIC: COSM253352

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142122_10142123insGG , CM000665.2:g.10142122_10142123insGG	GRCh38
NC_000003.11:g.10183806_10183807insGG , CM000665.1:g.10183806_10183807insGG	GRCh37
NC_000003.10:g.10158806_10158807insGG	NCBI36
NG_008212.3:g.5488_5489insGG , LRG_322:g.5488_5489insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.275_276insGG	ENSP00000512434.1:p.Asp92GlufsTer26
ENST00000696143.1:c.275_276insGG	ENSP00000512435.1:p.Asp92GlufsTer26
ENST00000696153.1:c.275_276insGG	ENSP00000512444.1:p.Asp92GlufsTer?
ENST00000256474.3:c.275_276insGG MANE Select	ENSP00000256474.3:p.Asp92GlufsTer?
ENST00000256474.2:c.275_276insGG	ENSP00000256474.2:p.Asp92GlufsTer?
ENST00000345392.2:c.275_276insGG	ENSP00000344757.2:p.Asp92GlufsTer27
NM_000551.3:c.275_276insGG , LRG_322t1:c.275_276insGG	NP_000542.1:p.Asp92GlufsTer?
NM_198156.2:c.275_276insGG	NP_937799.1:p.Asp92GlufsTer27
XM_011534078.1:c.275_276insGG	XP_011532380.1:p.Asp92GlufsTer26
NM_001354723.1:c.275_276insGG	NP_001341652.1:p.Asp92GlufsTer26
NM_000551.4:c.275_276insGG MANE Select	NP_000542.1:p.Asp92GlufsTer?
NM_001354723.2:c.275_276insGG	NP_001341652.1:p.Asp92GlufsTer26
NM_198156.3:c.275_276insGG	NP_937799.1:p.Asp92GlufsTer27