Canonical Allele Identifier: CA1345062645

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149878_10149881delinsCGAA , CM000665.2:g.10149878_10149881delinsCGAA	GRCh38
NC_000003.11:g.10191562_10191565delinsCGAA , CM000665.1:g.10191562_10191565delinsCGAA	GRCh37
NC_000003.10:g.10166562_10166565delinsCGAA	NCBI36
NG_008212.3:g.13244_13247delinsCGAA , LRG_322:g.13244_13247delinsCGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*232_*235delinsCGAA	ENSP00000512434.1:n.*232_*235delinsCGAA
ENST00000696143.1:c.691_694delinsCGAA	ENSP00000512435.1:n.691_694delinsCGAA
ENST00000696153.1:c.666_669delinsCGAA	ENSP00000512444.1:p.Tyr222=
ENST00000256474.3:c.555_558delinsCGAA MANE Select	ENSP00000256474.3:p.Tyr185=
ENST00000256474.2:c.555_558delinsCGAA	ENSP00000256474.2:p.Tyr185=
ENST00000345392.2:c.432_435delinsCGAA	ENSP00000344757.2:p.Tyr144=
ENST00000477538.1:n.691_694delinsCGAA
NM_000551.3:c.555_558delinsCGAA , LRG_322t1:c.555_558delinsCGAA	NP_000542.1:p.Tyr185=
NM_198156.2:c.432_435delinsCGAA	NP_937799.1:p.Tyr144=
NM_001354723.1:c.*109_*112delinsCGAA	NP_001341652.1:n.*109_*112delinsCGAA
NM_000551.4:c.555_558delinsCGAA MANE Select	NP_000542.1:p.Tyr185=
NM_001354723.2:c.*109_*112delinsCGAA	NP_001341652.1:n.*109_*112delinsCGAA
NM_198156.3:c.432_435delinsCGAA	NP_937799.1:p.Tyr144=