Canonical Allele Identifier: CA2557666498
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152783_10152786del , CM000665.2:g.10152783_10152786del GRCh38
NC_000003.11:g.10194467_10194470del , CM000665.1:g.10194467_10194470del GRCh37
NC_000003.10:g.10169467_10169470del NCBI36
NG_008212.3:g.16149_16152del , LRG_322:g.16149_16152del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2818_*2821del ENSP00000512444.1:n.*2818_*2821del
ENST00000256474.3:c.*2818_*2821del MANE Select ENSP00000256474.3:n.*2818_*2821del
NM_000551.3:c.*2818_*2821del , LRG_322t1:c.*2818_*2821del NP_000542.1:n.*2818_*2821del
NM_198156.2:c.*2818_*2821del NP_937799.1:n.*2818_*2821del
NM_001354723.1:c.*3014_*3017del NP_001341652.1:n.*3014_*3017del
NM_000551.4:c.*2818_*2821del MANE Select NP_000542.1:n.*2818_*2821del
NM_001354723.2:c.*3014_*3017del NP_001341652.1:n.*3014_*3017del
NM_198156.3:c.*2818_*2821del NP_937799.1:n.*2818_*2821del
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