Canonical Allele Identifier: CA645529528

Gene: VHL

Linked Data

• COSMIC: COSM253387

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149859_10149864del , CM000665.2:g.10149859_10149864del	GRCh38
NC_000003.11:g.10191543_10191548del , CM000665.1:g.10191543_10191548del	GRCh37
NC_000003.10:g.10166543_10166548del	NCBI36
NG_008212.3:g.13225_13230del , LRG_322:g.13225_13230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*213_*218del	ENSP00000512434.1:n.*213_*218del
ENST00000696143.1:c.672_677del	ENSP00000512435.1:n.672_677del
ENST00000696153.1:c.647_652del	ENSP00000512444.1:p.Asp216_Ile217del
ENST00000256474.3:c.536_541del MANE Select	ENSP00000256474.3:p.Asp179_Ile180del
ENST00000256474.2:c.536_541del	ENSP00000256474.2:p.Asp179_Ile180del
ENST00000345392.2:c.413_418del	ENSP00000344757.2:p.Asp138_Ile139del
ENST00000477538.1:n.672_677del
NM_000551.3:c.536_541del , LRG_322t1:c.536_541del	NP_000542.1:p.Asp179_Ile180del
NM_198156.2:c.413_418del	NP_937799.1:p.Asp138_Ile139del
NM_001354723.1:c.*90_*95del	NP_001341652.1:n.*90_*95del
NM_000551.4:c.536_541del MANE Select	NP_000542.1:p.Asp179_Ile180del
NM_001354723.2:c.*90_*95del	NP_001341652.1:n.*90_*95del
NM_198156.3:c.413_418del	NP_937799.1:p.Asp138_Ile139del