Canonical Allele Identifier: CA645524993

Gene: VHL

Linked Data

• COSMIC: COSM26791 ; COSM253375

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146614_10146617del , CM000665.2:g.10146614_10146617del	GRCh38
NC_000003.11:g.10188298_10188301del , CM000665.1:g.10188298_10188301del	GRCh37
NC_000003.10:g.10163298_10163301del	NCBI36
NG_008212.3:g.9980_9983del , LRG_322:g.9980_9983del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*118_*121del	ENSP00000512434.1:n.*118_*121del
ENST00000696143.1:c.600-3173_600-3170del	ENSP00000512435.1:n.600-3173_600-3170del
ENST00000696153.1:c.441_444del	ENSP00000512444.1:p.Ile147MetfsTer21
ENST00000256474.3:c.441_444del MANE Select	ENSP00000256474.3:p.Ile147MetfsTer11
ENST00000256474.2:c.441_444del	ENSP00000256474.2:p.Ile147MetfsTer11
ENST00000345392.2:c.341-3173_341-3170del	ENSP00000344757.2:n.341-3173_341-3170del
ENST00000477538.1:n.577_580del
NM_000551.3:c.441_444del , LRG_322t1:c.441_444del	NP_000542.1:p.Ile147MetfsTer11
NM_198156.2:c.341-3173_341-3170del	NP_937799.1:n.341-3173_341-3170del
NM_001354723.1:c.*18-3173_*18-3170del	NP_001341652.1:n.*18-3173_*18-3170del
NM_000551.4:c.441_444del MANE Select	NP_000542.1:p.Ile147MetfsTer11
NM_001354723.2:c.*18-3173_*18-3170del	NP_001341652.1:n.*18-3173_*18-3170del
NM_198156.3:c.341-3173_341-3170del	NP_937799.1:n.341-3173_341-3170del