Canonical Allele Identifier: CA2573048998

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142135_10142136insA , CM000665.2:g.10142135_10142136insA	GRCh38
NC_000003.11:g.10183819_10183820insA , CM000665.1:g.10183819_10183820insA	GRCh37
NC_000003.10:g.10158819_10158820insA	NCBI36
NG_008212.3:g.5501_5502insA , LRG_322:g.5501_5502insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.288_289insA	ENSP00000512434.1:p.Pro97ThrfsTer?
ENST00000696143.1:c.288_289insA	ENSP00000512435.1:p.Pro97ThrfsTer?
ENST00000696153.1:c.288_289insA	ENSP00000512444.1:p.Pro97ThrfsTer?
ENST00000256474.3:c.288_289insA MANE Select	ENSP00000256474.3:p.Pro97ThrfsTer?
ENST00000256474.2:c.288_289insA	ENSP00000256474.2:p.Pro97ThrfsTer?
ENST00000345392.2:c.288_289insA	ENSP00000344757.2:p.Pro97ThrfsTer?
NM_000551.3:c.288_289insA , LRG_322t1:c.288_289insA	NP_000542.1:p.Pro97ThrfsTer?
NM_198156.2:c.288_289insA	NP_937799.1:p.Pro97ThrfsTer?
XM_011534078.1:c.288_289insA	XP_011532380.1:p.Pro97ThrfsTer?
NM_001354723.1:c.288_289insA	NP_001341652.1:p.Pro97ThrfsTer?
NM_000551.4:c.288_289insA MANE Select	NP_000542.1:p.Pro97ThrfsTer?
NM_001354723.2:c.288_289insA	NP_001341652.1:p.Pro97ThrfsTer?
NM_198156.3:c.288_289insA	NP_937799.1:p.Pro97ThrfsTer?