Canonical Allele Identifier: CA2664400525

Gene: VHL

Linked Data

• gnomAD v4: 3-10142319-T-TTACGA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142319_10142320insTACGA , CM000665.2:g.10142319_10142320insTACGA	GRCh38
NC_000003.11:g.10184003_10184004insTACGA , CM000665.1:g.10184003_10184004insTACGA	GRCh37
NC_000003.10:g.10159003_10159004insTACGA	NCBI36
NG_008212.3:g.5685_5686insTACGA , LRG_322:g.5685_5686insTACGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.340+132_340+133insTACGA	ENSP00000512434.1:n.340+132_340+133insTACGA
ENST00000696143.1:c.340+132_340+133insTACGA	ENSP00000512435.1:n.340+132_340+133insTACGA
ENST00000696153.1:c.340+132_340+133insTACGA	ENSP00000512444.1:n.340+132_340+133insTACGA
ENST00000256474.3:c.340+132_340+133insTACGA MANE Select	ENSP00000256474.3:n.340+132_340+133insTACGA
ENST00000256474.2:c.340+132_340+133insTACGA	ENSP00000256474.2:n.340+132_340+133insTACGA
ENST00000345392.2:c.340+132_340+133insTACGA	ENSP00000344757.2:n.340+132_340+133insTACGA
NM_000551.3:c.340+132_340+133insTACGA , LRG_322t1:c.340+132_340+133insTACGA	NP_000542.1:n.340+132_340+133insTACGA
NM_198156.2:c.340+132_340+133insTACGA	NP_937799.1:n.340+132_340+133insTACGA
XM_011534078.1:c.340+132_340+133insTACGA	XP_011532380.1:n.340+132_340+133insTACGA
NM_001354723.1:c.340+132_340+133insTACGA	NP_001341652.1:n.340+132_340+133insTACGA
NM_000551.4:c.340+132_340+133insTACGA MANE Select	NP_000542.1:n.340+132_340+133insTACGA
NM_001354723.2:c.340+132_340+133insTACGA	NP_001341652.1:n.340+132_340+133insTACGA
NM_198156.3:c.340+132_340+133insTACGA	NP_937799.1:n.340+132_340+133insTACGA