Canonical Allele Identifier: CA1345065834
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153277_10153281delinsCAAAA , CM000665.2:g.10153277_10153281delinsCAAAA GRCh38
NC_000003.11:g.10194961_10194965delinsCAAAA , CM000665.1:g.10194961_10194965delinsCAAAA GRCh37
NC_000003.10:g.10169961_10169965delinsCAAAA NCBI36
NG_008212.3:g.16643_16647delinsCAAAA , LRG_322:g.16643_16647delinsCAAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*3312_*3316delinsCAAAA ENSP00000512444.1:n.*3312_*3316delinsCAAAA
ENST00000256474.3:c.*3312_*3316delinsCAAAA MANE Select ENSP00000256474.3:n.*3312_*3316delinsCAAAA
NM_000551.3:c.*3312_*3316delinsCAAAA , LRG_322t1:c.*3312_*3316delinsCAAAA NP_000542.1:n.*3312_*3316delinsCAAAA
NM_198156.2:c.*3312_*3316delinsCAAAA NP_937799.1:n.*3312_*3316delinsCAAAA
NM_001354723.1:c.*3508_*3512delinsCAAAA NP_001341652.1:n.*3508_*3512delinsCAAAA
NM_000551.4:c.*3312_*3316delinsCAAAA MANE Select NP_000542.1:n.*3312_*3316delinsCAAAA
NM_001354723.2:c.*3508_*3512delinsCAAAA NP_001341652.1:n.*3508_*3512delinsCAAAA
NM_198156.3:c.*3312_*3316delinsCAAAA NP_937799.1:n.*3312_*3316delinsCAAAA
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