Canonical Allele Identifier: CA1345058857

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146620_10146622delinsCAA , CM000665.2:g.10146620_10146622delinsCAA	GRCh38
NC_000003.11:g.10188304_10188306delinsCAA , CM000665.1:g.10188304_10188306delinsCAA	GRCh37
NC_000003.10:g.10163304_10163306delinsCAA	NCBI36
NG_008212.3:g.9986_9988delinsCAA , LRG_322:g.9986_9988delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*124_*126delinsCAA	ENSP00000512434.1:n.*124_*126delinsCAA
ENST00000696143.1:c.600-3167_600-3165delinsCAA	ENSP00000512435.1:n.600-3167_600-3165delinsCAA
ENST00000696153.1:c.447_449delinsCAA	ENSP00000512444.1:p.Ala149=
ENST00000256474.3:c.447_449delinsCAA MANE Select	ENSP00000256474.3:p.Ala149=
ENST00000256474.2:c.447_449delinsCAA	ENSP00000256474.2:p.Ala149=
ENST00000345392.2:c.341-3167_341-3165delinsCAA	ENSP00000344757.2:n.341-3167_341-3165delinsCAA
ENST00000477538.1:n.583_585delinsCAA
NM_000551.3:c.447_449delinsCAA , LRG_322t1:c.447_449delinsCAA	NP_000542.1:p.Ala149=
NM_198156.2:c.341-3167_341-3165delinsCAA	NP_937799.1:n.341-3167_341-3165delinsCAA
NM_001354723.1:c.*18-3167_*18-3165delinsCAA	NP_001341652.1:n.*18-3167_*18-3165delinsCAA
NM_000551.4:c.447_449delinsCAA MANE Select	NP_000542.1:p.Ala149=
NM_001354723.2:c.*18-3167_*18-3165delinsCAA	NP_001341652.1:n.*18-3167_*18-3165delinsCAA
NM_198156.3:c.341-3167_341-3165delinsCAA	NP_937799.1:n.341-3167_341-3165delinsCAA