Canonical Allele Identifier: CA432420519

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10183825_10183826insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142141_10142142insA , CM000665.2:g.10142141_10142142insA	GRCh38
NC_000003.11:g.10183825_10183826insA , CM000665.1:g.10183825_10183826insA	GRCh37
NC_000003.10:g.10158825_10158826insA	NCBI36
NG_008212.3:g.5507_5508insA , LRG_322:g.5507_5508insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.294_295insA	ENSP00000512434.1:p.Pro99ThrfsTer?
ENST00000696143.1:c.294_295insA	ENSP00000512435.1:p.Pro99ThrfsTer?
ENST00000696153.1:c.294_295insA	ENSP00000512444.1:p.Pro99ThrfsTer?
ENST00000256474.3:c.294_295insA MANE Select	ENSP00000256474.3:p.Pro99ThrfsTer?
ENST00000256474.2:c.294_295insA	ENSP00000256474.2:p.Pro99ThrfsTer?
ENST00000345392.2:c.294_295insA	ENSP00000344757.2:p.Pro99ThrfsTer?
NM_000551.3:c.294_295insA , LRG_322t1:c.294_295insA	NP_000542.1:p.Pro99ThrfsTer?
NM_198156.2:c.294_295insA	NP_937799.1:p.Pro99ThrfsTer?
XM_011534078.1:c.294_295insA	XP_011532380.1:p.Pro99ThrfsTer?
NM_001354723.1:c.294_295insA	NP_001341652.1:p.Pro99ThrfsTer?
NM_000551.4:c.294_295insA MANE Select	NP_000542.1:p.Pro99ThrfsTer?
NM_001354723.2:c.294_295insA	NP_001341652.1:p.Pro99ThrfsTer?
NM_198156.3:c.294_295insA	NP_937799.1:p.Pro99ThrfsTer?