Canonical Allele Identifier: CA1345066764

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142411_10142416delinsTCTCGA , CM000665.2:g.10142411_10142416delinsTCTCGA	GRCh38
NC_000003.11:g.10184095_10184100delinsTCTCGA , CM000665.1:g.10184095_10184100delinsTCTCGA	GRCh37
NC_000003.10:g.10159095_10159100delinsTCTCGA	NCBI36
NG_008212.3:g.5777_5782delinsTCTCGA , LRG_322:g.5777_5782delinsTCTCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.340+224_340+229delinsTCTCGA	ENSP00000512434.1:n.340+224_340+229delinsTCTCGA
ENST00000696143.1:c.340+224_340+229delinsTCTCGA	ENSP00000512435.1:n.340+224_340+229delinsTCTCGA
ENST00000696153.1:c.340+224_340+229delinsTCTCGA	ENSP00000512444.1:n.340+224_340+229delinsTCTCGA
ENST00000256474.3:c.340+224_340+229delinsTCTCGA MANE Select	ENSP00000256474.3:n.340+224_340+229delinsTCTCGA
ENST00000256474.2:c.340+224_340+229delinsTCTCGA	ENSP00000256474.2:n.340+224_340+229delinsTCTCGA
ENST00000345392.2:c.340+224_340+229delinsTCTCGA	ENSP00000344757.2:n.340+224_340+229delinsTCTCGA
NM_000551.3:c.340+224_340+229delinsTCTCGA , LRG_322t1:c.340+224_340+229delinsTCTCGA	NP_000542.1:n.340+224_340+229delinsTCTCGA
NM_198156.2:c.340+224_340+229delinsTCTCGA	NP_937799.1:n.340+224_340+229delinsTCTCGA
XM_011534078.1:c.340+224_340+229delinsTCTCGA	XP_011532380.1:n.340+224_340+229delinsTCTCGA
NM_001354723.1:c.340+224_340+229delinsTCTCGA	NP_001341652.1:n.340+224_340+229delinsTCTCGA
NM_000551.4:c.340+224_340+229delinsTCTCGA MANE Select	NP_000542.1:n.340+224_340+229delinsTCTCGA
NM_001354723.2:c.340+224_340+229delinsTCTCGA	NP_001341652.1:n.340+224_340+229delinsTCTCGA
NM_198156.3:c.340+224_340+229delinsTCTCGA	NP_937799.1:n.340+224_340+229delinsTCTCGA