Canonical Allele Identifier: CA645524690

Gene: VHL

Linked Data

• COSMIC: COSM18253

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142048_10142053delinsA , CM000665.2:g.10142048_10142053delinsA	GRCh38
NC_000003.11:g.10183732_10183737delinsA , CM000665.1:g.10183732_10183737delinsA	GRCh37
NC_000003.10:g.10158732_10158737delinsA	NCBI36
NG_008212.3:g.5414_5419delinsA , LRG_322:g.5414_5419delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.201_206delinsA	ENSP00000512434.1:p.Asn67LysfsTer?
ENST00000696143.1:c.201_206delinsA	ENSP00000512435.1:p.Asn67LysfsTer?
ENST00000696153.1:c.201_206delinsA	ENSP00000512444.1:p.Asn67LysfsTer?
ENST00000256474.3:c.201_206delinsA MANE Select	ENSP00000256474.3:p.Asn67LysfsTer?
ENST00000256474.2:c.201_206delinsA	ENSP00000256474.2:p.Asn67LysfsTer?
ENST00000345392.2:c.201_206delinsA	ENSP00000344757.2:p.Asn67LysfsTer?
NM_000551.3:c.201_206delinsA , LRG_322t1:c.201_206delinsA	NP_000542.1:p.Asn67LysfsTer?
NM_198156.2:c.201_206delinsA	NP_937799.1:p.Asn67LysfsTer?
XM_011534078.1:c.201_206delinsA	XP_011532380.1:p.Asn67LysfsTer?
NM_001354723.1:c.201_206delinsA	NP_001341652.1:p.Asn67LysfsTer?
NM_000551.4:c.201_206delinsA MANE Select	NP_000542.1:p.Asn67LysfsTer?
NM_001354723.2:c.201_206delinsA	NP_001341652.1:p.Asn67LysfsTer?
NM_198156.3:c.201_206delinsA	NP_937799.1:p.Asn67LysfsTer?