Canonical Allele Identifier: CA645525035

Gene: VHL

Linked Data

• COSMIC: COSM17981

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149791_10149799del , CM000665.2:g.10149791_10149799del	GRCh38
NC_000003.11:g.10191475_10191483del , CM000665.1:g.10191475_10191483del	GRCh37
NC_000003.10:g.10166475_10166483del	NCBI36
NG_008212.3:g.13157_13165del , LRG_322:g.13157_13165del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*145_*153del	ENSP00000512434.1:n.*145_*153del
ENST00000696143.1:c.604_612del	ENSP00000512435.1:n.604_612del
ENST00000696153.1:c.579_587del	ENSP00000512444.1:p.Tyr193Ter
ENST00000256474.3:c.468_476del MANE Select	ENSP00000256474.3:p.Tyr156Ter
ENST00000256474.2:c.468_476del	ENSP00000256474.2:p.Tyr156Ter
ENST00000345392.2:c.345_353del	ENSP00000344757.2:p.Tyr115Ter
ENST00000477538.1:n.604_612del
NM_000551.3:c.468_476del , LRG_322t1:c.468_476del	NP_000542.1:p.Tyr156Ter
NM_198156.2:c.345_353del	NP_937799.1:p.Tyr115Ter
NM_001354723.1:c.*22_*30del	NP_001341652.1:n.*22_*30del
NM_000551.4:c.468_476del MANE Select	NP_000542.1:p.Tyr156Ter
NM_001354723.2:c.*22_*30del	NP_001341652.1:n.*22_*30del
NM_198156.3:c.345_353del	NP_937799.1:p.Tyr115Ter