Canonical Allele Identifier: CA645525048

Gene: VHL

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149796_10149797delinsCC , CM000665.2:g.10149796_10149797delinsCC	GRCh38
NC_000003.11:g.10191480_10191481delinsCC , CM000665.1:g.10191480_10191481delinsCC	GRCh37
NC_000003.10:g.10166480_10166481delinsCC	NCBI36
NG_008212.3:g.13162_13163delinsCC , LRG_322:g.13162_13163delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*150_*151delinsCC	ENSP00000512434.1:n.*150_*151delinsCC
ENST00000696143.1:c.609_610delinsCC	ENSP00000512435.1:n.609_610delinsCC
ENST00000696153.1:c.584_585delinsCC	ENSP00000512444.1:p.Leu195Pro
ENST00000256474.3:c.473_474delinsCC MANE Select	ENSP00000256474.3:p.Leu158Pro
ENST00000256474.2:c.473_474delinsCC	ENSP00000256474.2:p.Leu158Pro
ENST00000345392.2:c.350_351delinsCC	ENSP00000344757.2:p.Leu117Pro
ENST00000477538.1:n.609_610delinsCC
NM_000551.3:c.473_474delinsCC , LRG_322t1:c.473_474delinsCC	NP_000542.1:p.Leu158Pro
NM_198156.2:c.350_351delinsCC	NP_937799.1:p.Leu117Pro
NM_001354723.1:c.*27_*28delinsCC	NP_001341652.1:n.*27_*28delinsCC
NM_000551.4:c.473_474delinsCC MANE Select	NP_000542.1:p.Leu158Pro
NM_001354723.2:c.*27_*28delinsCC	NP_001341652.1:n.*27_*28delinsCC
NM_198156.3:c.350_351delinsCC	NP_937799.1:p.Leu117Pro