Canonical Allele Identifier: CA916832662

Gene: VHL

Linked Data

• dbSNP Id: rs1575924340

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10143614dup , CM000665.2:g.10143614dup	GRCh38
NC_000003.11:g.10185298dup , CM000665.1:g.10185298dup	GRCh37
NC_000003.10:g.10160298dup	NCBI36
NG_008212.3:g.6980dup , LRG_322:g.6980dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+593dup	ENSP00000512434.1:n.*17+593dup
ENST00000696143.1:c.599+593dup	ENSP00000512435.1:n.599+593dup
ENST00000696153.1:c.340+1427dup	ENSP00000512444.1:n.340+1427dup
ENST00000256474.3:c.340+1427dup MANE Select	ENSP00000256474.3:n.340+1427dup
ENST00000256474.2:c.340+1427dup	ENSP00000256474.2:n.340+1427dup
ENST00000345392.2:c.340+1427dup	ENSP00000344757.2:n.340+1427dup
ENST00000477538.1:n.476+593dup
NM_000551.3:c.340+1427dup , LRG_322t1:c.340+1427dup	NP_000542.1:n.340+1427dup
NM_198156.2:c.340+1427dup	NP_937799.1:n.340+1427dup
XM_011534078.1:c.*17+593dup	XP_011532380.1:n.*17+593dup
NM_001354723.1:c.*17+593dup	NP_001341652.1:n.*17+593dup
NM_000551.4:c.340+1427dup MANE Select	NP_000542.1:n.340+1427dup
NM_001354723.2:c.*17+593dup	NP_001341652.1:n.*17+593dup
NM_198156.3:c.340+1427dup	NP_937799.1:n.340+1427dup