Canonical Allele Identifier: CA541213486

Gene: VHL

Linked Data

• ClinVar Variation Id: 560735
• ClinVar RCV Id: RCV000679010 ; RCV004004215 ; RCV003768032
• dbSNP Id: rs1361905543
• gnomAD v2: 3-10183476-CG-C
• gnomAD v3: 3-10141792-CG-C
• gnomAD v4: 3-10141792-CG-C
• MyVariant Identifiers: chr3:g.10183477del (hg19) ; chr3:g.10141793del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141793del , CM000665.2:g.10141793del	GRCh38
NC_000003.11:g.10183477del , CM000665.1:g.10183477del	GRCh37
NC_000003.10:g.10158477del	NCBI36
NG_008212.3:g.5159del , LRG_322:g.5159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.-55del	ENSP00000512434.1:n.-55del
ENST00000696153.1:c.-55del	ENSP00000512444.1:n.-55del
ENST00000256474.3:c.-55del MANE Select	ENSP00000256474.3:n.-55del
ENST00000256474.2:c.-55del	ENSP00000256474.2:n.-55del
ENST00000345392.2:c.-55del	ENSP00000344757.2:n.-55del
NM_000551.3:c.-55del , LRG_322t1:c.-55del	NP_000542.1:n.-55del
NM_198156.2:c.-55del	NP_937799.1:n.-55del
XM_011534078.1:c.-55del	XP_011532380.1:n.-55del
NM_001354723.1:c.-55del	NP_001341652.1:n.-55del
NM_000551.4:c.-55del MANE Select	NP_000542.1:n.-55del
NM_001354723.2:c.-55del	NP_001341652.1:n.-55del
NM_198156.3:c.-55del	NP_937799.1:n.-55del