Canonical Allele Identifier: CA70055096
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs967514688
gnomAD v2: 3-10194961-C-CAA
gnomAD v3: 3-10153277-C-CAA
gnomAD v4: 3-10153277-C-CAA
MyVariant Identifiers: chr3:g.10194965_10194966insAA (hg19) chr3:g.10194961_10194962insAA (hg19) chr3:g.10153281_10153282insAA (hg38) chr3:g.10153277_10153278insAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153287_10153288dup , CM000665.2:g.10153287_10153288dup GRCh38
NC_000003.11:g.10194971_10194972dup , CM000665.1:g.10194971_10194972dup GRCh37
NC_000003.10:g.10169971_10169972dup NCBI36
NG_008212.3:g.16653_16654dup , LRG_322:g.16653_16654dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*3322_*3323dup ENSP00000512444.1:n.*3322_*3323dup
ENST00000256474.3:c.*3322_*3323dup MANE Select ENSP00000256474.3:n.*3322_*3323dup
NM_000551.3:c.*3322_*3323dup , LRG_322t1:c.*3322_*3323dup NP_000542.1:n.*3322_*3323dup
NM_198156.2:c.*3322_*3323dup NP_937799.1:n.*3322_*3323dup
NM_001354723.1:c.*3518_*3519dup NP_001341652.1:n.*3518_*3519dup
NM_000551.4:c.*3322_*3323dup MANE Select NP_000542.1:n.*3322_*3323dup
NM_001354723.2:c.*3518_*3519dup NP_001341652.1:n.*3518_*3519dup
NM_198156.3:c.*3322_*3323dup NP_937799.1:n.*3322_*3323dup
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