Canonical Allele Identifier: CA70055120
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs916263633
gnomAD v2: 3-10194973-CA-C
gnomAD v3: 3-10153289-CA-C
gnomAD v4: 3-10153289-CA-C
MyVariant Identifiers: chr3:g.10194974del (hg19) chr3:g.10153290del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153295del , CM000665.2:g.10153295del GRCh38
NC_000003.11:g.10194979del , CM000665.1:g.10194979del GRCh37
NC_000003.10:g.10169979del NCBI36
NG_008212.3:g.16661del , LRG_322:g.16661del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*3330del ENSP00000512444.1:n.*3330del
ENST00000256474.3:c.*3330del MANE Select ENSP00000256474.3:n.*3330del
NM_000551.3:c.*3330del , LRG_322t1:c.*3330del NP_000542.1:n.*3330del
NM_198156.2:c.*3330del NP_937799.1:n.*3330del
NM_001354723.1:c.*3526del NP_001341652.1:n.*3526del
NM_000551.4:c.*3330del MANE Select NP_000542.1:n.*3330del
NM_001354723.2:c.*3526del NP_001341652.1:n.*3526del
NM_198156.3:c.*3330del NP_937799.1:n.*3330del
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