Canonical Allele Identifier: CA645525064

Gene: VHL

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149811_10149812delinsCT , CM000665.2:g.10149811_10149812delinsCT	GRCh38
NC_000003.11:g.10191495_10191496delinsCT , CM000665.1:g.10191495_10191496delinsCT	GRCh37
NC_000003.10:g.10166495_10166496delinsCT	NCBI36
NG_008212.3:g.13177_13178delinsCT , LRG_322:g.13177_13178delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*165_*166delinsCT	ENSP00000512434.1:n.*165_*166delinsCT
ENST00000696143.1:c.624_625delinsCT	ENSP00000512435.1:n.624_625delinsCT
ENST00000696153.1:c.599_600delinsCT	ENSP00000512444.1:p.Leu200Pro
ENST00000256474.3:c.488_489delinsCT MANE Select	ENSP00000256474.3:p.Leu163Pro
ENST00000256474.2:c.488_489delinsCT	ENSP00000256474.2:p.Leu163Pro
ENST00000345392.2:c.365_366delinsCT	ENSP00000344757.2:p.Leu122Pro
ENST00000477538.1:n.624_625delinsCT
NM_000551.3:c.488_489delinsCT , LRG_322t1:c.488_489delinsCT	NP_000542.1:p.Leu163Pro
NM_198156.2:c.365_366delinsCT	NP_937799.1:p.Leu122Pro
NM_001354723.1:c.*42_*43delinsCT	NP_001341652.1:n.*42_*43delinsCT
NM_000551.4:c.488_489delinsCT MANE Select	NP_000542.1:p.Leu163Pro
NM_001354723.2:c.*42_*43delinsCT	NP_001341652.1:n.*42_*43delinsCT
NM_198156.3:c.365_366delinsCT	NP_937799.1:p.Leu122Pro