Canonical Allele Identifier: CA2664403080
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10152369-CAAAAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152380_10152384del , CM000665.2:g.10152380_10152384del GRCh38
NC_000003.11:g.10194064_10194068del , CM000665.1:g.10194064_10194068del GRCh37
NC_000003.10:g.10169064_10169068del NCBI36
NG_008212.3:g.15746_15750del , LRG_322:g.15746_15750del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2415_*2419del ENSP00000512444.1:n.*2415_*2419del
ENST00000256474.3:c.*2415_*2419del MANE Select ENSP00000256474.3:n.*2415_*2419del
NM_000551.3:c.*2415_*2419del , LRG_322t1:c.*2415_*2419del NP_000542.1:n.*2415_*2419del
NM_198156.2:c.*2415_*2419del NP_937799.1:n.*2415_*2419del
NM_001354723.1:c.*2611_*2615del NP_001341652.1:n.*2611_*2615del
NM_000551.4:c.*2415_*2419del MANE Select NP_000542.1:n.*2415_*2419del
NM_001354723.2:c.*2611_*2615del NP_001341652.1:n.*2611_*2615del
NM_198156.3:c.*2415_*2419del NP_937799.1:n.*2415_*2419del
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