Canonical Allele Identifier: CA1045000843
Gene: VHL HGNC NCBI

Linked Data

gnomAD v3: 3-10152369-C-CAAAAA
gnomAD v4: 3-10152369-C-CAAAAA
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152380_10152384dup , CM000665.2:g.10152380_10152384dup GRCh38
NC_000003.11:g.10194064_10194068dup , CM000665.1:g.10194064_10194068dup GRCh37
NC_000003.10:g.10169064_10169068dup NCBI36
NG_008212.3:g.15746_15750dup , LRG_322:g.15746_15750dup

Transcript Alleles

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