Canonical Allele Identifier: CA70054457
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1033950636
gnomAD v3: 3-10152387-C-CAAATCAGA
gnomAD v4: 3-10152387-C-CAAATCAGA
MyVariant Identifiers: chr3:g.10194071_10194072insAAATCAGA (hg19) chr3:g.10152387_10152388insAAATCAGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152388_10152395dup , CM000665.2:g.10152388_10152395dup GRCh38
NC_000003.11:g.10194072_10194079dup , CM000665.1:g.10194072_10194079dup GRCh37
NC_000003.10:g.10169072_10169079dup NCBI36
NG_008212.3:g.15754_15761dup , LRG_322:g.15754_15761dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2423_*2430dup ENSP00000512444.1:n.*2423_*2430dup
ENST00000256474.3:c.*2423_*2430dup MANE Select ENSP00000256474.3:n.*2423_*2430dup
NM_000551.3:c.*2423_*2430dup , LRG_322t1:c.*2423_*2430dup NP_000542.1:n.*2423_*2430dup
NM_198156.2:c.*2423_*2430dup NP_937799.1:n.*2423_*2430dup
NM_001354723.1:c.*2619_*2626dup NP_001341652.1:n.*2619_*2626dup
NM_000551.4:c.*2423_*2430dup MANE Select NP_000542.1:n.*2423_*2430dup
NM_001354723.2:c.*2619_*2626dup NP_001341652.1:n.*2619_*2626dup
NM_198156.3:c.*2423_*2430dup NP_937799.1:n.*2423_*2430dup
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