Canonical Allele Identifier: CA645525041

Gene: VHL

Linked Data

• COSMIC: COSM674222

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149793_10149799delinsT , CM000665.2:g.10149793_10149799delinsT	GRCh38
NC_000003.11:g.10191477_10191483delinsT , CM000665.1:g.10191477_10191483delinsT	GRCh37
NC_000003.10:g.10166477_10166483delinsT	NCBI36
NG_008212.3:g.13159_13165delinsT , LRG_322:g.13159_13165delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*147_*153delinsT	ENSP00000512434.1:n.*147_*153delinsT
ENST00000696143.1:c.606_612delinsT	ENSP00000512435.1:n.606_612delinsT
ENST00000696153.1:c.581_587delinsT	ENSP00000512444.1:p.Thr194_Lys196delinsIl...
ENST00000256474.3:c.470_476delinsT MANE Select	ENSP00000256474.3:p.Thr157_Lys159delinsIl...
ENST00000256474.2:c.470_476delinsT	ENSP00000256474.2:p.Thr157_Lys159delinsIl...
ENST00000345392.2:c.347_353delinsT	ENSP00000344757.2:p.Thr116_Lys118delinsIl...
ENST00000477538.1:n.606_612delinsT
NM_000551.3:c.470_476delinsT , LRG_322t1:c.470_476delinsT	NP_000542.1:p.Thr157_Lys159delinsIle
NM_198156.2:c.347_353delinsT	NP_937799.1:p.Thr116_Lys118delinsIle
NM_001354723.1:c.*24_*30delinsT	NP_001341652.1:n.*24_*30delinsT
NM_000551.4:c.470_476delinsT MANE Select	NP_000542.1:p.Thr157_Lys159delinsIle
NM_001354723.2:c.*24_*30delinsT	NP_001341652.1:n.*24_*30delinsT
NM_198156.3:c.347_353delinsT	NP_937799.1:p.Thr116_Lys118delinsIle