Canonical Allele Identifier: CA645529564

Gene: VHL

Linked Data

• COSMIC: COSM18018

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149896_10149899del , CM000665.2:g.10149896_10149899del	GRCh38
NC_000003.11:g.10191580_10191583del , CM000665.1:g.10191580_10191583del	GRCh37
NC_000003.10:g.10166580_10166583del	NCBI36
NG_008212.3:g.13262_13265del , LRG_322:g.13262_13265del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*250_*253del	ENSP00000512434.1:n.*250_*253del
ENST00000696143.1:c.709_712del	ENSP00000512435.1:n.709_712del
ENST00000696153.1:c.684_687del	ENSP00000512444.1:p.His228GlnfsTer10
ENST00000256474.3:c.573_576del MANE Select	ENSP00000256474.3:p.His191GlnfsTer10
ENST00000256474.2:c.573_576del	ENSP00000256474.2:p.His191GlnfsTer10
ENST00000345392.2:c.450_453del	ENSP00000344757.2:p.His150GlnfsTer10
ENST00000477538.1:n.709_712del
NM_000551.3:c.573_576del , LRG_322t1:c.573_576del	NP_000542.1:p.His191GlnfsTer10
NM_198156.2:c.450_453del	NP_937799.1:p.His150GlnfsTer10
NM_001354723.1:c.*127_*130del	NP_001341652.1:n.*127_*130del
NM_000551.4:c.573_576del MANE Select	NP_000542.1:p.His191GlnfsTer10
NM_001354723.2:c.*127_*130del	NP_001341652.1:n.*127_*130del
NM_198156.3:c.450_453del	NP_937799.1:p.His150GlnfsTer10