Canonical Allele Identifier: CA896161620

Gene: VHL

Linked Data

• dbSNP Id: rs1346332752
• MyVariant Identifiers: chr3:g.10186369_10186374del (hg19) ; chr3:g.10144685_10144690del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144697_10144702del , CM000665.2:g.10144697_10144702del	GRCh38
NC_000003.11:g.10186381_10186386del , CM000665.1:g.10186381_10186386del	GRCh37
NC_000003.10:g.10161381_10161386del	NCBI36
NG_008212.3:g.8063_8068del , LRG_322:g.8063_8068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1676_*17+1681del	ENSP00000512434.1:n.*17+1676_*17+1681del
ENST00000696143.1:c.599+1676_599+1681del	ENSP00000512435.1:n.599+1676_599+1681del
ENST00000696153.1:c.341-1817_341-1812del	ENSP00000512444.1:n.341-1817_341-1812del
ENST00000256474.3:c.341-1817_341-1812del MANE Select	ENSP00000256474.3:n.341-1817_341-1812del
ENST00000256474.2:c.341-1817_341-1812del	ENSP00000256474.2:n.341-1817_341-1812del
ENST00000345392.2:c.340+2510_340+2515del	ENSP00000344757.2:n.340+2510_340+2515del
ENST00000477538.1:n.476+1676_476+1681del
NM_000551.3:c.341-1817_341-1812del , LRG_322t1:c.341-1817_341-1812del	NP_000542.1:n.341-1817_341-1812del
NM_198156.2:c.340+2510_340+2515del	NP_937799.1:n.340+2510_340+2515del
XM_011534078.1:c.*17+1676_*17+1681del	XP_011532380.1:n.*17+1676_*17+1681del
NM_001354723.1:c.*17+1676_*17+1681del	NP_001341652.1:n.*17+1676_*17+1681del
NM_000551.4:c.341-1817_341-1812del MANE Select	NP_000542.1:n.341-1817_341-1812del
NM_001354723.2:c.*17+1676_*17+1681del	NP_001341652.1:n.*17+1676_*17+1681del
NM_198156.3:c.340+2510_340+2515del	NP_937799.1:n.340+2510_340+2515del