Canonical Allele Identifier: CA2664400823

Gene: VHL

Linked Data

• gnomAD v4: 3-10142480-GGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142481_10142483del , CM000665.2:g.10142481_10142483del	GRCh38
NC_000003.11:g.10184165_10184167del , CM000665.1:g.10184165_10184167del	GRCh37
NC_000003.10:g.10159165_10159167del	NCBI36
NG_008212.3:g.5847_5849del , LRG_322:g.5847_5849del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.341-282_341-280del	ENSP00000512434.1:n.341-282_341-280del
ENST00000696143.1:c.341-282_341-280del	ENSP00000512435.1:n.341-282_341-280del
ENST00000696153.1:c.340+294_340+296del	ENSP00000512444.1:n.340+294_340+296del
ENST00000256474.3:c.340+294_340+296del MANE Select	ENSP00000256474.3:n.340+294_340+296del
ENST00000256474.2:c.340+294_340+296del	ENSP00000256474.2:n.340+294_340+296del
ENST00000345392.2:c.340+294_340+296del	ENSP00000344757.2:n.340+294_340+296del
NM_000551.3:c.340+294_340+296del , LRG_322t1:c.340+294_340+296del	NP_000542.1:n.340+294_340+296del
NM_198156.2:c.340+294_340+296del	NP_937799.1:n.340+294_340+296del
XM_011534078.1:c.341-282_341-280del	XP_011532380.1:n.341-282_341-280del
NM_001354723.1:c.341-282_341-280del	NP_001341652.1:n.341-282_341-280del
NM_000551.4:c.340+294_340+296del MANE Select	NP_000542.1:n.340+294_340+296del
NM_001354723.2:c.341-282_341-280del	NP_001341652.1:n.341-282_341-280del
NM_198156.3:c.340+294_340+296del	NP_937799.1:n.340+294_340+296del