Canonical Allele Identifier: CA1044996156

Gene: VHL

Linked Data

• dbSNP Id: rs1696198580
• gnomAD v3: 3-10144237-CAGG-C
• gnomAD v4: 3-10144237-CAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144242_10144244del , CM000665.2:g.10144242_10144244del	GRCh38
NC_000003.11:g.10185926_10185928del , CM000665.1:g.10185926_10185928del	GRCh37
NC_000003.10:g.10160926_10160928del	NCBI36
NG_008212.3:g.7608_7610del , LRG_322:g.7608_7610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1221_*17+1223del	ENSP00000512434.1:n.*17+1221_*17+1223del
ENST00000696143.1:c.599+1221_599+1223del	ENSP00000512435.1:n.599+1221_599+1223del
ENST00000696153.1:c.340+2055_340+2057del	ENSP00000512444.1:n.340+2055_340+2057del
ENST00000256474.3:c.340+2055_340+2057del MANE Select	ENSP00000256474.3:n.340+2055_340+2057del
ENST00000256474.2:c.340+2055_340+2057del	ENSP00000256474.2:n.340+2055_340+2057del
ENST00000345392.2:c.340+2055_340+2057del	ENSP00000344757.2:n.340+2055_340+2057del
ENST00000477538.1:n.476+1221_476+1223del
NM_000551.3:c.340+2055_340+2057del , LRG_322t1:c.340+2055_340+2057del	NP_000542.1:n.340+2055_340+2057del
NM_198156.2:c.340+2055_340+2057del	NP_937799.1:n.340+2055_340+2057del
XM_011534078.1:c.*17+1221_*17+1223del	XP_011532380.1:n.*17+1221_*17+1223del
NM_001354723.1:c.*17+1221_*17+1223del	NP_001341652.1:n.*17+1221_*17+1223del
NM_000551.4:c.340+2055_340+2057del MANE Select	NP_000542.1:n.340+2055_340+2057del
NM_001354723.2:c.*17+1221_*17+1223del	NP_001341652.1:n.*17+1221_*17+1223del
NM_198156.3:c.340+2055_340+2057del	NP_937799.1:n.340+2055_340+2057del