Canonical Allele Identifier: CA1345062817

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149906_10149908delinsCAG , CM000665.2:g.10149906_10149908delinsCAG	GRCh38
NC_000003.11:g.10191590_10191592delinsCAG , CM000665.1:g.10191590_10191592delinsCAG	GRCh37
NC_000003.10:g.10166590_10166592delinsCAG	NCBI36
NG_008212.3:g.13272_13274delinsCAG , LRG_322:g.13272_13274delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*260_*262delinsCAG	ENSP00000512434.1:n.*260_*262delinsCAG
ENST00000696143.1:c.719_721delinsCAG	ENSP00000512435.1:n.719_721delinsCAG
ENST00000696153.1:c.694_696delinsCAG	ENSP00000512444.1:p.Gln232=
ENST00000256474.3:c.583_585delinsCAG MANE Select	ENSP00000256474.3:p.Gln195=
ENST00000256474.2:c.583_585delinsCAG	ENSP00000256474.2:p.Gln195=
ENST00000345392.2:c.460_462delinsCAG	ENSP00000344757.2:p.Gln154=
ENST00000477538.1:n.719_721delinsCAG
NM_000551.3:c.583_585delinsCAG , LRG_322t1:c.583_585delinsCAG	NP_000542.1:p.Gln195=
NM_198156.2:c.460_462delinsCAG	NP_937799.1:p.Gln154=
NM_001354723.1:c.*137_*139delinsCAG	NP_001341652.1:n.*137_*139delinsCAG
NM_000551.4:c.583_585delinsCAG MANE Select	NP_000542.1:p.Gln195=
NM_001354723.2:c.*137_*139delinsCAG	NP_001341652.1:n.*137_*139delinsCAG
NM_198156.3:c.460_462delinsCAG	NP_937799.1:p.Gln154=