Canonical Allele Identifier: CA645525007

Gene: VHL

Linked Data

• COSMIC: COSM479175

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146624_10146625delinsTA , CM000665.2:g.10146624_10146625delinsTA	GRCh38
NC_000003.11:g.10188308_10188309delinsTA , CM000665.1:g.10188308_10188309delinsTA	GRCh37
NC_000003.10:g.10163308_10163309delinsTA	NCBI36
NG_008212.3:g.9990_9991delinsTA , LRG_322:g.9990_9991delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*128_*129delinsTA	ENSP00000512434.1:n.*128_*129delinsTA
ENST00000696143.1:c.600-3163_600-3162delinsTA	ENSP00000512435.1:n.600-3163_600-3162delinsTA
ENST00000696153.1:c.451_452delinsTA	ENSP00000512444.1:p.Ile151Tyr
ENST00000256474.3:c.451_452delinsTA MANE Select	ENSP00000256474.3:p.Ile151Tyr
ENST00000256474.2:c.451_452delinsTA	ENSP00000256474.2:p.Ile151Tyr
ENST00000345392.2:c.341-3163_341-3162delinsTA	ENSP00000344757.2:n.341-3163_341-3162delinsTA
ENST00000477538.1:n.587_588delinsTA
NM_000551.3:c.451_452delinsTA , LRG_322t1:c.451_452delinsTA	NP_000542.1:p.Ile151Tyr
NM_198156.2:c.341-3163_341-3162delinsTA	NP_937799.1:n.341-3163_341-3162delinsTA
NM_001354723.1:c.*18-3163_*18-3162delinsTA	NP_001341652.1:n.*18-3163_*18-3162delinsTA
NM_000551.4:c.451_452delinsTA MANE Select	NP_000542.1:p.Ile151Tyr
NM_001354723.2:c.*18-3163_*18-3162delinsTA	NP_001341652.1:n.*18-3163_*18-3162delinsTA
NM_198156.3:c.341-3163_341-3162delinsTA	NP_937799.1:n.341-3163_341-3162delinsTA