Canonical Allele Identifier: CA645524794

Gene: VHL

Linked Data

• COSMIC: COSM30342

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142122_10142129delinsT , CM000665.2:g.10142122_10142129delinsT	GRCh38
NC_000003.11:g.10183806_10183813delinsT , CM000665.1:g.10183806_10183813delinsT	GRCh37
NC_000003.10:g.10158806_10158813delinsT	NCBI36
NG_008212.3:g.5488_5495delinsT , LRG_322:g.5488_5495delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.275_282delinsT	ENSP00000512434.1:p.Asp92ValfsTer23
ENST00000696143.1:c.275_282delinsT	ENSP00000512435.1:p.Asp92ValfsTer23
ENST00000696153.1:c.275_282delinsT	ENSP00000512444.1:p.Asp92ValfsTer?
ENST00000256474.3:c.275_282delinsT MANE Select	ENSP00000256474.3:p.Asp92ValfsTer?
ENST00000256474.2:c.275_282delinsT	ENSP00000256474.2:p.Asp92ValfsTer?
ENST00000345392.2:c.275_282delinsT	ENSP00000344757.2:p.Asp92ValfsTer24
NM_000551.3:c.275_282delinsT , LRG_322t1:c.275_282delinsT	NP_000542.1:p.Asp92ValfsTer?
NM_198156.2:c.275_282delinsT	NP_937799.1:p.Asp92ValfsTer24
XM_011534078.1:c.275_282delinsT	XP_011532380.1:p.Asp92ValfsTer23
NM_001354723.1:c.275_282delinsT	NP_001341652.1:p.Asp92ValfsTer23
NM_000551.4:c.275_282delinsT MANE Select	NP_000542.1:p.Asp92ValfsTer?
NM_001354723.2:c.275_282delinsT	NP_001341652.1:p.Asp92ValfsTer23
NM_198156.3:c.275_282delinsT	NP_937799.1:p.Asp92ValfsTer24