Canonical Allele Identifier: CA645529544

Gene: VHL

Linked Data

• COSMIC: COSM674223

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149878_10149882delinsAT , CM000665.2:g.10149878_10149882delinsAT	GRCh38
NC_000003.11:g.10191562_10191566delinsAT , CM000665.1:g.10191562_10191566delinsAT	GRCh37
NC_000003.10:g.10166562_10166566delinsAT	NCBI36
NG_008212.3:g.13244_13248delinsAT , LRG_322:g.13244_13248delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*232_*236delinsAT	ENSP00000512434.1:n.*232_*236delinsAT
ENST00000696143.1:c.691_695delinsAT	ENSP00000512435.1:n.691_695delinsAT
ENST00000696153.1:c.666_670delinsAT	ENSP00000512444.1:p.Tyr222Ter
ENST00000256474.3:c.555_559delinsAT MANE Select	ENSP00000256474.3:p.Tyr185Ter
ENST00000256474.2:c.555_559delinsAT	ENSP00000256474.2:p.Tyr185Ter
ENST00000345392.2:c.432_436delinsAT	ENSP00000344757.2:p.Tyr144Ter
ENST00000477538.1:n.691_695delinsAT
NM_000551.3:c.555_559delinsAT , LRG_322t1:c.555_559delinsAT	NP_000542.1:p.Tyr185Ter
NM_198156.2:c.432_436delinsAT	NP_937799.1:p.Tyr144Ter
NM_001354723.1:c.*109_*113delinsAT	NP_001341652.1:n.*109_*113delinsAT
NM_000551.4:c.555_559delinsAT MANE Select	NP_000542.1:p.Tyr185Ter
NM_001354723.2:c.*109_*113delinsAT	NP_001341652.1:n.*109_*113delinsAT
NM_198156.3:c.432_436delinsAT	NP_937799.1:p.Tyr144Ter