Canonical Allele Identifier: CA645524623
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM17804
MyVariant Identifiers: chr3:g.10183532_10183548del (hg19)
CIViC: CA645524623
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141848_10141864del , CM000665.2:g.10141848_10141864del GRCh38
NC_000003.11:g.10183532_10183548del , CM000665.1:g.10183532_10183548del GRCh37
NC_000003.10:g.10158532_10158548del NCBI36
NG_008212.3:g.5214_5230del , LRG_322:g.5214_5230del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.1_17del ENSP00000512434.1:p.Met1GlufsTer20
ENST00000696153.1:c.1_17del ENSP00000512444.1:p.Met1GlufsTer20
ENST00000256474.3:c.1_17del MANE Select ENSP00000256474.3:p.Met1GlufsTer20
ENST00000256474.2:c.1_17del ENSP00000256474.2:p.Met1GlufsTer20
ENST00000345392.2:c.1_17del ENSP00000344757.2:p.Met1GlufsTer20
NM_000551.3:c.1_17del , LRG_322t1:c.1_17del NP_000542.1:p.Met1GlufsTer20
NM_198156.2:c.1_17del NP_937799.1:p.Met1GlufsTer20
XM_011534078.1:c.1_17del XP_011532380.1:p.Met1GlufsTer20
NM_001354723.1:c.1_17del NP_001341652.1:p.Met1GlufsTer20
NM_000551.4:c.1_17del MANE Select NP_000542.1:p.Met1GlufsTer20
NM_001354723.2:c.1_17del NP_001341652.1:p.Met1GlufsTer20
NM_198156.3:c.1_17del NP_937799.1:p.Met1GlufsTer20
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