Canonical Allele Identifier: CA645529538

Gene: VHL

Linked Data

• COSMIC: COSM18019

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149871_10149878del , CM000665.2:g.10149871_10149878del	GRCh38
NC_000003.11:g.10191555_10191562del , CM000665.1:g.10191555_10191562del	GRCh37
NC_000003.10:g.10166555_10166562del	NCBI36
NG_008212.3:g.13237_13244del , LRG_322:g.13237_13244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*225_*232del	ENSP00000512434.1:n.*225_*232del
ENST00000696143.1:c.684_691del	ENSP00000512435.1:n.684_691del
ENST00000696153.1:c.659_666del	ENSP00000512444.1:p.Ser220Ter
ENST00000256474.3:c.548_555del MANE Select	ENSP00000256474.3:p.Ser183Ter
ENST00000256474.2:c.548_555del	ENSP00000256474.2:p.Ser183Ter
ENST00000345392.2:c.425_432del	ENSP00000344757.2:p.Ser142Ter
ENST00000477538.1:n.684_691del
NM_000551.3:c.548_555del , LRG_322t1:c.548_555del	NP_000542.1:p.Ser183Ter
NM_198156.2:c.425_432del	NP_937799.1:p.Ser142Ter
NM_001354723.1:c.*102_*109del	NP_001341652.1:n.*102_*109del
NM_000551.4:c.548_555del MANE Select	NP_000542.1:p.Ser183Ter
NM_001354723.2:c.*102_*109del	NP_001341652.1:n.*102_*109del
NM_198156.3:c.425_432del	NP_937799.1:p.Ser142Ter