Canonical Allele Identifier: CA645529565

Gene: VHL

Linked Data

• COSMIC: COSM17803

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149896_10149900del , CM000665.2:g.10149896_10149900del	GRCh38
NC_000003.11:g.10191580_10191584del , CM000665.1:g.10191580_10191584del	GRCh37
NC_000003.10:g.10166580_10166584del	NCBI36
NG_008212.3:g.13262_13266del , LRG_322:g.13262_13266del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*250_*254del	ENSP00000512434.1:n.*250_*254del
ENST00000696143.1:c.709_713del	ENSP00000512435.1:n.709_713del
ENST00000696153.1:c.684_688del	ENSP00000512444.1:p.His228GlnfsTer?
ENST00000256474.3:c.573_577del MANE Select	ENSP00000256474.3:p.His191GlnfsTer?
ENST00000256474.2:c.573_577del	ENSP00000256474.2:p.His191GlnfsTer?
ENST00000345392.2:c.450_454del	ENSP00000344757.2:p.His150GlnfsTer?
ENST00000477538.1:n.709_713del
NM_000551.3:c.573_577del , LRG_322t1:c.573_577del	NP_000542.1:p.His191GlnfsTer?
NM_198156.2:c.450_454del	NP_937799.1:p.His150GlnfsTer?
NM_001354723.1:c.*127_*131del	NP_001341652.1:n.*127_*131del
NM_000551.4:c.573_577del MANE Select	NP_000542.1:p.His191GlnfsTer?
NM_001354723.2:c.*127_*131del	NP_001341652.1:n.*127_*131del
NM_198156.3:c.450_454del	NP_937799.1:p.His150GlnfsTer?