Canonical Allele Identifier: CA645525033

Gene: VHL

Linked Data

• COSMIC: COSM17848 ; COSM17980

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149791_10149792del , CM000665.2:g.10149791_10149792del	GRCh38
NC_000003.11:g.10191475_10191476del , CM000665.1:g.10191475_10191476del	GRCh37
NC_000003.10:g.10166475_10166476del	NCBI36
NG_008212.3:g.13157_13158del , LRG_322:g.13157_13158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*145_*146del	ENSP00000512434.1:n.*145_*146del
ENST00000696143.1:c.604_605del	ENSP00000512435.1:n.604_605del
ENST00000696153.1:c.579_580del	ENSP00000512444.1:p.Thr194SerfsTer16
ENST00000256474.3:c.468_469del MANE Select	ENSP00000256474.3:p.Thr157SerfsTer16
ENST00000256474.2:c.468_469del	ENSP00000256474.2:p.Thr157SerfsTer16
ENST00000345392.2:c.345_346del	ENSP00000344757.2:p.Thr116SerfsTer16
ENST00000477538.1:n.604_605del
NM_000551.3:c.468_469del , LRG_322t1:c.468_469del	NP_000542.1:p.Thr157SerfsTer16
NM_198156.2:c.345_346del	NP_937799.1:p.Thr116SerfsTer16
NM_001354723.1:c.*22_*23del	NP_001341652.1:n.*22_*23del
NM_000551.4:c.468_469del MANE Select	NP_000542.1:p.Thr157SerfsTer16
NM_001354723.2:c.*22_*23del	NP_001341652.1:n.*22_*23del
NM_198156.3:c.345_346del	NP_937799.1:p.Thr116SerfsTer16