Canonical Allele Identifier: CA645525022
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM423204

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149787_10149801del , CM000665.2:g.10149787_10149801del GRCh38
NC_000003.11:g.10191471_10191485del , CM000665.1:g.10191471_10191485del GRCh37
NC_000003.10:g.10166471_10166485del NCBI36
NG_008212.3:g.13153_13167del , LRG_322:g.13153_13167del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*141_*155del
ENST00000696143.1:c.600_614del
ENST00000696153.1:c.575_589del
ENST00000256474.3:c.464_478del
ENST00000256474.2:c.464_478del
ENST00000345392.2:c.341_355del
ENST00000477538.1:n.600_614del
NM_000551.3:c.464_478del , LRG_322t1:c.464_478del
NM_198156.2:c.341_355del
NM_001354723.1:c.*18_*32del
NM_000551.4:c.464_478del
NM_001354723.2:c.*18_*32del
NM_198156.3:c.341_355del