Canonical Allele Identifier: CA2580068372

Gene: VHL

Linked Data

• ClinVar Variation Id: 2498921
• ClinVar RCV Id: RCV003223130

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141786_10141805del , CM000665.2:g.10141786_10141805del	GRCh38
NC_000003.11:g.10183470_10183489del , CM000665.1:g.10183470_10183489del	GRCh37
NC_000003.10:g.10158470_10158489del	NCBI36
NG_008212.3:g.5152_5171del , LRG_322:g.5152_5171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.-62_-43del	ENSP00000512434.1:n.-62_-43del
ENST00000696153.1:c.-62_-43del	ENSP00000512444.1:n.-62_-43del
ENST00000256474.3:c.-62_-43del MANE Select	ENSP00000256474.3:n.-62_-43del
ENST00000256474.2:c.-62_-43del	ENSP00000256474.2:n.-62_-43del
NM_000551.3:c.-62_-43del , LRG_322t1:c.-62_-43del	NP_000542.1:n.-62_-43del
NM_198156.2:c.-62_-43del	NP_937799.1:n.-62_-43del
XM_011534078.1:c.-62_-43del	XP_011532380.1:n.-62_-43del
NM_001354723.1:c.-62_-43del	NP_001341652.1:n.-62_-43del
NM_000551.4:c.-62_-43del MANE Select	NP_000542.1:n.-62_-43del
NM_001354723.2:c.-62_-43del	NP_001341652.1:n.-62_-43del
NM_198156.3:c.-62_-43del	NP_937799.1:n.-62_-43del