Canonical Allele Identifier: CA658655750

Gene: VHL

Linked Data

• ClinVar Variation Id: 456565
• ClinVar RCV Id: RCV000528640 ; RCV001384431
• dbSNP Id: rs1553619952
• MyVariant Identifiers: chr3:g.10188234del (hg19) ; chr3:g.10146550del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146550del , CM000665.2:g.10146550del	GRCh38
NC_000003.11:g.10188234del , CM000665.1:g.10188234del	GRCh37
NC_000003.10:g.10163234del	NCBI36
NG_008212.3:g.9916del , LRG_322:g.9916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*54del	ENSP00000512434.1:n.*54del
ENST00000696143.1:c.600-3237del	ENSP00000512435.1:n.600-3237del
ENST00000696153.1:c.377del	ENSP00000512444.1:p.Asp126ValfsTer?
ENST00000256474.3:c.377del MANE Select	ENSP00000256474.3:p.Asp126ValfsTer?
ENST00000256474.2:c.377del	ENSP00000256474.2:p.Asp126ValfsTer?
ENST00000345392.2:c.341-3237del	ENSP00000344757.2:n.341-3237del
ENST00000477538.1:n.513del
NM_000551.3:c.377del , LRG_322t1:c.377del	NP_000542.1:p.Asp126ValfsTer?
NM_198156.2:c.341-3237del	NP_937799.1:n.341-3237del
XM_011534078.1:c.*54del	XP_011532380.1:n.*54del
NM_001354723.1:c.*18-3237del	NP_001341652.1:n.*18-3237del
NM_000551.4:c.377del MANE Select	NP_000542.1:p.Asp126ValfsTer?
NM_001354723.2:c.*18-3237del	NP_001341652.1:n.*18-3237del
NM_198156.3:c.341-3237del	NP_937799.1:n.341-3237del