Canonical Allele Identifier: CA2499216379

Gene: VHL

Linked Data

• ClinVar Variation Id: 997732
• ClinVar RCV Id: RCV001293289

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10145563_10148769del , CM000665.2:g.10145563_10148769del	GRCh38
NC_000003.11:g.10187247_10190453del , CM000665.1:g.10187247_10190453del	GRCh37
NC_000003.10:g.10162247_10165453del	NCBI36
NG_008212.3:g.8929_12135del , LRG_322:g.8929_12135del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-951_*141-1018del
ENST00000696143.1:c.599+2542_600-1018del	ENSP00000512435.1:n.599+2542_600-1018del
ENST00000696153.1:c.341-951_529del
ENST00000256474.3:c.341-951_464-1018del
ENST00000256474.2:c.341-951_464-1018del
ENST00000345392.2:c.340+3376_341-1018del	ENSP00000344757.2:n.340+3376_341-1018del
ENST00000477538.1:n.477-951_600-1018del
NM_000551.3:c.341-951_464-1018del , LRG_322t1:c.341-951_464-1018del
NM_198156.2:c.340+3376_341-1018del	NP_937799.1:n.340+3376_341-1018del
NM_001354723.1:c.*17+2542_*18-1018del	NP_001341652.1:n.*17+2542_*18-1018del
NM_000551.4:c.341-951_464-1018del
NM_001354723.2:c.*17+2542_*18-1018del	NP_001341652.1:n.*17+2542_*18-1018del
NM_198156.3:c.340+3376_341-1018del	NP_937799.1:n.340+3376_341-1018del