Canonical Allele Identifier: CA540877719
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1364080159
gnomAD v2: 3-10194190-TTTTTG-T
gnomAD v3: 3-10152506-TTTTTG-T
gnomAD v4: 3-10152506-TTTTTG-T
MyVariant Identifiers: chr3:g.10194191_10194195del (hg19) chr3:g.10194191_10194196delinsA (hg19) chr3:g.10152507_10152511del (hg38) chr3:g.10152507_10152512delinsA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152507_10152511del , CM000665.2:g.10152507_10152511del GRCh38
NC_000003.11:g.10194191_10194195del , CM000665.1:g.10194191_10194195del GRCh37
NC_000003.10:g.10169191_10169195del NCBI36
NG_008212.3:g.15873_15877del , LRG_322:g.15873_15877del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2542_*2546del ENSP00000512444.1:n.*2542_*2546del
ENST00000256474.3:c.*2542_*2546del MANE Select ENSP00000256474.3:n.*2542_*2546del
NM_000551.3:c.*2542_*2546del , LRG_322t1:c.*2542_*2546del NP_000542.1:n.*2542_*2546del
NM_198156.2:c.*2542_*2546del NP_937799.1:n.*2542_*2546del
NM_001354723.1:c.*2738_*2742del NP_001341652.1:n.*2738_*2742del
NM_000551.4:c.*2542_*2546del MANE Select NP_000542.1:n.*2542_*2546del
NM_001354723.2:c.*2738_*2742del NP_001341652.1:n.*2738_*2742del
NM_198156.3:c.*2542_*2546del NP_937799.1:n.*2542_*2546del
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