Canonical Allele Identifier: CA540877846
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs967514688
gnomAD v2: 3-10194961-CAAAA-C
gnomAD v3: 3-10153277-CAAAA-C
gnomAD v4: 3-10153277-CAAAA-C
MyVariant Identifiers: chr3:g.10194962_10194965del (hg19) chr3:g.10153278_10153281del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153285_10153288del , CM000665.2:g.10153285_10153288del GRCh38
NC_000003.11:g.10194969_10194972del , CM000665.1:g.10194969_10194972del GRCh37
NC_000003.10:g.10169969_10169972del NCBI36
NG_008212.3:g.16651_16654del , LRG_322:g.16651_16654del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*3320_*3323del ENSP00000512444.1:n.*3320_*3323del
ENST00000256474.3:c.*3320_*3323del MANE Select ENSP00000256474.3:n.*3320_*3323del
NM_000551.3:c.*3320_*3323del , LRG_322t1:c.*3320_*3323del NP_000542.1:n.*3320_*3323del
NM_198156.2:c.*3320_*3323del NP_937799.1:n.*3320_*3323del
NM_001354723.1:c.*3516_*3519del NP_001341652.1:n.*3516_*3519del
NM_000551.4:c.*3320_*3323del MANE Select NP_000542.1:n.*3320_*3323del
NM_001354723.2:c.*3516_*3519del NP_001341652.1:n.*3516_*3519del
NM_198156.3:c.*3320_*3323del NP_937799.1:n.*3320_*3323del
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