Canonical Allele Identifier: CA1139655756

Gene: VHL

Linked Data

• ClinVar Variation Id: 972333
• ClinVar RCV Id: RCV001248335
• dbSNP Id: rs1696262643

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146549_10146555delinsAA , CM000665.2:g.10146549_10146555delinsAA	GRCh38
NC_000003.11:g.10188233_10188239delinsAA , CM000665.1:g.10188233_10188239delinsAA	GRCh37
NC_000003.10:g.10163233_10163239delinsAA	NCBI36
NG_008212.3:g.9915_9921delinsAA , LRG_322:g.9915_9921delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*53_*59delinsAA	ENSP00000512434.1:n.*53_*59delinsAA
ENST00000696143.1:c.600-3238_600-3232delinsAA	ENSP00000512435.1:n.600-3238_600-3232delinsAA
ENST00000696153.1:c.376_382delinsAA	ENSP00000512444.1:p.Asp126AsnfsTer4
ENST00000256474.3:c.376_382delinsAA MANE Select	ENSP00000256474.3:p.Asp126AsnfsTer4
ENST00000256474.2:c.376_382delinsAA	ENSP00000256474.2:p.Asp126AsnfsTer4
ENST00000345392.2:c.341-3238_341-3232delinsAA	ENSP00000344757.2:n.341-3238_341-3232delinsAA
ENST00000477538.1:n.512_518delinsAA
NM_000551.3:c.376_382delinsAA , LRG_322t1:c.376_382delinsAA	NP_000542.1:p.Asp126AsnfsTer4
NM_198156.2:c.341-3238_341-3232delinsAA	NP_937799.1:n.341-3238_341-3232delinsAA
XM_011534078.1:c.*53_*59delinsAA	XP_011532380.1:n.*53_*59delinsAA
NM_001354723.1:c.*18-3238_*18-3232delinsAA	NP_001341652.1:n.*18-3238_*18-3232delinsAA
NM_000551.4:c.376_382delinsAA MANE Select	NP_000542.1:p.Asp126AsnfsTer4
NM_001354723.2:c.*18-3238_*18-3232delinsAA	NP_001341652.1:n.*18-3238_*18-3232delinsAA
NM_198156.3:c.341-3238_341-3232delinsAA	NP_937799.1:n.341-3238_341-3232delinsAA