Canonical Allele Identifier: CA645529563

Gene: VHL

Linked Data

• COSMIC: COSM18159

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149894_10149898del , CM000665.2:g.10149894_10149898del	GRCh38
NC_000003.11:g.10191578_10191582del , CM000665.1:g.10191578_10191582del	GRCh37
NC_000003.10:g.10166578_10166582del	NCBI36
NG_008212.3:g.13260_13264del , LRG_322:g.13260_13264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*248_*252del	ENSP00000512434.1:n.*248_*252del
ENST00000696143.1:c.707_711del	ENSP00000512435.1:n.707_711del
ENST00000696153.1:c.682_686del	ENSP00000512444.1:p.His228LysfsTer?
ENST00000256474.3:c.571_575del MANE Select	ENSP00000256474.3:p.His191LysfsTer?
ENST00000256474.2:c.571_575del	ENSP00000256474.2:p.His191LysfsTer?
ENST00000345392.2:c.448_452del	ENSP00000344757.2:p.His150LysfsTer?
ENST00000477538.1:n.707_711del
NM_000551.3:c.571_575del , LRG_322t1:c.571_575del	NP_000542.1:p.His191LysfsTer?
NM_198156.2:c.448_452del	NP_937799.1:p.His150LysfsTer?
NM_001354723.1:c.*125_*129del	NP_001341652.1:n.*125_*129del
NM_000551.4:c.571_575del MANE Select	NP_000542.1:p.His191LysfsTer?
NM_001354723.2:c.*125_*129del	NP_001341652.1:n.*125_*129del
NM_198156.3:c.448_452del	NP_937799.1:p.His150LysfsTer?