Canonical Allele Identifier: CA916832706

Gene: VHL

Linked Data

• dbSNP Id: rs869255492

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146625_10146639del , CM000665.2:g.10146625_10146639del	GRCh38
NC_000003.11:g.10188309_10188323del , CM000665.1:g.10188309_10188323del	GRCh37
NC_000003.10:g.10163309_10163323del	NCBI36
NG_008212.3:g.9991_10005del , LRG_322:g.9991_10005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*129_*140+3del
ENST00000696143.1:c.600-3162_600-3148del	ENSP00000512435.1:n.600-3162_600-3148del
ENST00000696153.1:c.452_463+3del
ENST00000256474.3:c.452_463+3del
ENST00000256474.2:c.452_463+3del
ENST00000345392.2:c.341-3162_341-3148del	ENSP00000344757.2:n.341-3162_341-3148del
ENST00000477538.1:n.588_599+3del
NM_000551.3:c.452_463+3del , LRG_322t1:c.452_463+3del
NM_198156.2:c.341-3162_341-3148del	NP_937799.1:n.341-3162_341-3148del
NM_001354723.1:c.*18-3162_*18-3148del	NP_001341652.1:n.*18-3162_*18-3148del
NM_000551.4:c.452_463+3del
NM_001354723.2:c.*18-3162_*18-3148del	NP_001341652.1:n.*18-3162_*18-3148del
NM_198156.3:c.341-3162_341-3148del	NP_937799.1:n.341-3162_341-3148del