Canonical Allele Identifier: CA645529554

Gene: VHL

Linked Data

• COSMIC: COSM17795

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149884_10149886del , CM000665.2:g.10149884_10149886del	GRCh38
NC_000003.11:g.10191568_10191570del , CM000665.1:g.10191568_10191570del	GRCh37
NC_000003.10:g.10166568_10166570del	NCBI36
NG_008212.3:g.13250_13252del , LRG_322:g.13250_13252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*238_*240del	ENSP00000512434.1:n.*238_*240del
ENST00000696143.1:c.697_699del	ENSP00000512435.1:n.697_699del
ENST00000696153.1:c.672_674del	ENSP00000512444.1:p.Asp224_Leu225delinsGlu
ENST00000256474.3:c.561_563del MANE Select	ENSP00000256474.3:p.Asp187_Leu188delinsGlu
ENST00000256474.2:c.561_563del	ENSP00000256474.2:p.Asp187_Leu188delinsGlu
ENST00000345392.2:c.438_440del	ENSP00000344757.2:p.Asp146_Leu147delinsGlu
ENST00000477538.1:n.697_699del
NM_000551.3:c.561_563del , LRG_322t1:c.561_563del	NP_000542.1:p.Asp187_Leu188delinsGlu
NM_198156.2:c.438_440del	NP_937799.1:p.Asp146_Leu147delinsGlu
NM_001354723.1:c.*115_*117del	NP_001341652.1:n.*115_*117del
NM_000551.4:c.561_563del MANE Select	NP_000542.1:p.Asp187_Leu188delinsGlu
NM_001354723.2:c.*115_*117del	NP_001341652.1:n.*115_*117del
NM_198156.3:c.438_440del	NP_937799.1:p.Asp146_Leu147delinsGlu