Canonical Allele Identifier: CA2499216354

Gene: VHL

Linked Data

• ClinVar Variation Id: 997758
• ClinVar RCV Id: RCV001293315

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142470_10147135del , CM000665.2:g.10142470_10147135del	GRCh38
NC_000003.11:g.10184154_10188819del , CM000665.1:g.10184154_10188819del	GRCh37
NC_000003.10:g.10159154_10163819del	NCBI36
NG_008212.3:g.5836_10501del , LRG_322:g.5836_10501del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.340+283_*140+499del
ENST00000696143.1:c.340+283_600-2652del
ENST00000696153.1:c.340+283_463+499del
ENST00000256474.3:c.340+283_463+499del
ENST00000256474.2:c.340+283_463+499del
ENST00000345392.2:c.340+283_341-2652del	ENSP00000344757.2:n.340+283_341-2652del
NM_000551.3:c.340+283_463+499del , LRG_322t1:c.340+283_463+499del
NM_198156.2:c.340+283_341-2652del	NP_937799.1:n.340+283_341-2652del
NM_001354723.1:c.340+283_*18-2652del
NM_000551.4:c.340+283_463+499del
NM_001354723.2:c.340+283_*18-2652del
NM_198156.3:c.340+283_341-2652del	NP_937799.1:n.340+283_341-2652del