Canonical Allele Identifier: CA896162715

Gene: VHL

Linked Data

• dbSNP Id: rs1216900023
• gnomAD v3: 3-10146430-TC-T
• gnomAD v4: 3-10146430-TC-T
• MyVariant Identifiers: chr3:g.10188115del (hg19) ; chr3:g.10146431del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146433del , CM000665.2:g.10146433del	GRCh38
NC_000003.11:g.10188117del , CM000665.1:g.10188117del	GRCh37
NC_000003.10:g.10163117del	NCBI36
NG_008212.3:g.9799del , LRG_322:g.9799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-81del	ENSP00000512434.1:n.*18-81del
ENST00000696143.1:c.600-3354del	ENSP00000512435.1:n.600-3354del
ENST00000696153.1:c.341-81del	ENSP00000512444.1:n.341-81del
ENST00000256474.3:c.341-81del MANE Select	ENSP00000256474.3:n.341-81del
ENST00000256474.2:c.341-81del	ENSP00000256474.2:n.341-81del
ENST00000345392.2:c.341-3354del	ENSP00000344757.2:n.341-3354del
ENST00000477538.1:n.477-81del
NM_000551.3:c.341-81del , LRG_322t1:c.341-81del	NP_000542.1:n.341-81del
NM_198156.2:c.341-3354del	NP_937799.1:n.341-3354del
XM_011534078.1:c.*18-81del	XP_011532380.1:n.*18-81del
NM_001354723.1:c.*18-3354del	NP_001341652.1:n.*18-3354del
NM_000551.4:c.341-81del MANE Select	NP_000542.1:n.341-81del
NM_001354723.2:c.*18-3354del	NP_001341652.1:n.*18-3354del
NM_198156.3:c.341-3354del	NP_937799.1:n.341-3354del