Canonical Allele Identifier: CA1045001962
Gene: VHL HGNC NCBI

Linked Data

gnomAD v3: 3-10153410-CA-C
gnomAD v4: 3-10153410-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153412del , CM000665.2:g.10153412del GRCh38
NC_000003.11:g.10195096del , CM000665.1:g.10195096del GRCh37
NC_000003.10:g.10170096del NCBI36
NG_008212.3:g.16778del , LRG_322:g.16778del

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*3447del ENSP00000512444.1:n.*3447del
ENST00000256474.3:c.*3447del MANE Select ENSP00000256474.3:n.*3447del
NM_000551.3:c.*3447del , LRG_322t1:c.*3447del NP_000542.1:n.*3447del
NM_198156.2:c.*3447del NP_937799.1:n.*3447del
NM_001354723.1:c.*3643del NP_001341652.1:n.*3643del
NM_000551.4:c.*3447del MANE Select NP_000542.1:n.*3447del
NM_001354723.2:c.*3643del NP_001341652.1:n.*3643del
NM_198156.3:c.*3447del NP_937799.1:n.*3447del
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