Canonical Allele Identifier: CA645525039

Gene: VHL

Linked Data

• COSMIC: COSM423206

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149793_10149800del , CM000665.2:g.10149793_10149800del	GRCh38
NC_000003.11:g.10191477_10191484del , CM000665.1:g.10191477_10191484del	GRCh37
NC_000003.10:g.10166477_10166484del	NCBI36
NG_008212.3:g.13159_13166del , LRG_322:g.13159_13166del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*147_*154del	ENSP00000512434.1:n.*147_*154del
ENST00000696143.1:c.606_613del	ENSP00000512435.1:n.606_613del
ENST00000696153.1:c.581_588del	ENSP00000512444.1:p.Thr194ArgfsTer14
ENST00000256474.3:c.470_477del MANE Select	ENSP00000256474.3:p.Thr157ArgfsTer14
ENST00000256474.2:c.470_477del	ENSP00000256474.2:p.Thr157ArgfsTer14
ENST00000345392.2:c.347_354del	ENSP00000344757.2:p.Thr116ArgfsTer14
ENST00000477538.1:n.606_613del
NM_000551.3:c.470_477del , LRG_322t1:c.470_477del	NP_000542.1:p.Thr157ArgfsTer14
NM_198156.2:c.347_354del	NP_937799.1:p.Thr116ArgfsTer14
NM_001354723.1:c.*24_*31del	NP_001341652.1:n.*24_*31del
NM_000551.4:c.470_477del MANE Select	NP_000542.1:p.Thr157ArgfsTer14
NM_001354723.2:c.*24_*31del	NP_001341652.1:n.*24_*31del
NM_198156.3:c.347_354del	NP_937799.1:p.Thr116ArgfsTer14