Canonical Allele Identifier: CA1045001775
Gene: VHL HGNC NCBI

Linked Data

gnomAD v3: 3-10153177-CTGAG-C
gnomAD v4: 3-10153177-CTGAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153178_10153181del , CM000665.2:g.10153178_10153181del GRCh38
NC_000003.11:g.10194862_10194865del , CM000665.1:g.10194862_10194865del GRCh37
NC_000003.10:g.10169862_10169865del NCBI36
NG_008212.3:g.16544_16547del , LRG_322:g.16544_16547del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*3213_*3216del ENSP00000512444.1:n.*3213_*3216del
ENST00000256474.3:c.*3213_*3216del MANE Select ENSP00000256474.3:n.*3213_*3216del
NM_000551.3:c.*3213_*3216del , LRG_322t1:c.*3213_*3216del NP_000542.1:n.*3213_*3216del
NM_198156.2:c.*3213_*3216del NP_937799.1:n.*3213_*3216del
NM_001354723.1:c.*3409_*3412del NP_001341652.1:n.*3409_*3412del
NM_000551.4:c.*3213_*3216del MANE Select NP_000542.1:n.*3213_*3216del
NM_001354723.2:c.*3409_*3412del NP_001341652.1:n.*3409_*3412del
NM_198156.3:c.*3213_*3216del NP_937799.1:n.*3213_*3216del
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