Canonical Allele Identifier: CA896161609

Gene: VHL

Linked Data

• dbSNP Id: rs1318693596
• gnomAD v3: 3-10144680-TTC-T
• gnomAD v4: 3-10144680-TTC-T
• MyVariant Identifiers: chr3:g.10186365_10186366del (hg19) ; chr3:g.10144681_10144682del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144682_10144683del , CM000665.2:g.10144682_10144683del	GRCh38
NC_000003.11:g.10186366_10186367del , CM000665.1:g.10186366_10186367del	GRCh37
NC_000003.10:g.10161366_10161367del	NCBI36
NG_008212.3:g.8048_8049del , LRG_322:g.8048_8049del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*17+1661_*17+1662del	ENSP00000512434.1:n.*17+1661_*17+1662del
ENST00000696143.1:c.599+1661_599+1662del	ENSP00000512435.1:n.599+1661_599+1662del
ENST00000696153.1:c.341-1832_341-1831del	ENSP00000512444.1:n.341-1832_341-1831del
ENST00000256474.3:c.341-1832_341-1831del MANE Select	ENSP00000256474.3:n.341-1832_341-1831del
ENST00000256474.2:c.341-1832_341-1831del	ENSP00000256474.2:n.341-1832_341-1831del
ENST00000345392.2:c.340+2495_340+2496del	ENSP00000344757.2:n.340+2495_340+2496del
ENST00000477538.1:n.476+1661_476+1662del
NM_000551.3:c.341-1832_341-1831del , LRG_322t1:c.341-1832_341-1831del	NP_000542.1:n.341-1832_341-1831del
NM_198156.2:c.340+2495_340+2496del	NP_937799.1:n.340+2495_340+2496del
XM_011534078.1:c.*17+1661_*17+1662del	XP_011532380.1:n.*17+1661_*17+1662del
NM_001354723.1:c.*17+1661_*17+1662del	NP_001341652.1:n.*17+1661_*17+1662del
NM_000551.4:c.341-1832_341-1831del MANE Select	NP_000542.1:n.341-1832_341-1831del
NM_001354723.2:c.*17+1661_*17+1662del	NP_001341652.1:n.*17+1661_*17+1662del
NM_198156.3:c.340+2495_340+2496del	NP_937799.1:n.340+2495_340+2496del