Canonical Allele Identifier: CA540877683
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs564788050
gnomAD v2: 3-10194053-CA-C
gnomAD v3: 3-10152369-CA-C
gnomAD v4: 3-10152369-CA-C
MyVariant Identifiers: chr3:g.10194056del (hg19) chr3:g.10194054del (hg19) chr3:g.10152372del (hg38) chr3:g.10152370del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152384del , CM000665.2:g.10152384del GRCh38
NC_000003.11:g.10194068del , CM000665.1:g.10194068del GRCh37
NC_000003.10:g.10169068del NCBI36
NG_008212.3:g.15750del , LRG_322:g.15750del

Transcript Alleles

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