Canonical Allele Identifier: CA1345065532
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152823_10152825delinsCAA , CM000665.2:g.10152823_10152825delinsCAA GRCh38
NC_000003.11:g.10194507_10194509delinsCAA , CM000665.1:g.10194507_10194509delinsCAA GRCh37
NC_000003.10:g.10169507_10169509delinsCAA NCBI36
NG_008212.3:g.16189_16191delinsCAA , LRG_322:g.16189_16191delinsCAA

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*2858_*2860delinsCAA ENSP00000512444.1:n.*2858_*2860delinsCAA
ENST00000256474.3:c.*2858_*2860delinsCAA MANE Select ENSP00000256474.3:n.*2858_*2860delinsCAA
NM_000551.3:c.*2858_*2860delinsCAA , LRG_322t1:c.*2858_*2860delinsCAA NP_000542.1:n.*2858_*2860delinsCAA
NM_198156.2:c.*2858_*2860delinsCAA NP_937799.1:n.*2858_*2860delinsCAA
NM_001354723.1:c.*3054_*3056delinsCAA NP_001341652.1:n.*3054_*3056delinsCAA
NM_000551.4:c.*2858_*2860delinsCAA MANE Select NP_000542.1:n.*2858_*2860delinsCAA
NM_001354723.2:c.*3054_*3056delinsCAA NP_001341652.1:n.*3054_*3056delinsCAA
NM_198156.3:c.*2858_*2860delinsCAA NP_937799.1:n.*2858_*2860delinsCAA
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