Canonical Allele Identifier: CA2664403079
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10152368-T-TAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152368_10152369insAA , CM000665.2:g.10152368_10152369insAA GRCh38
NC_000003.11:g.10194052_10194053insAA , CM000665.1:g.10194052_10194053insAA GRCh37
NC_000003.10:g.10169052_10169053insAA NCBI36
NG_008212.3:g.15734_15735insAA , LRG_322:g.15734_15735insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2403_*2404insAA ENSP00000512444.1:n.*2403_*2404insAA
ENST00000256474.3:c.*2403_*2404insAA MANE Select ENSP00000256474.3:n.*2403_*2404insAA
NM_000551.3:c.*2403_*2404insAA , LRG_322t1:c.*2403_*2404insAA NP_000542.1:n.*2403_*2404insAA
NM_198156.2:c.*2403_*2404insAA NP_937799.1:n.*2403_*2404insAA
NM_001354723.1:c.*2599_*2600insAA NP_001341652.1:n.*2599_*2600insAA
NM_000551.4:c.*2403_*2404insAA MANE Select NP_000542.1:n.*2403_*2404insAA
NM_001354723.2:c.*2599_*2600insAA NP_001341652.1:n.*2599_*2600insAA
NM_198156.3:c.*2403_*2404insAA NP_937799.1:n.*2403_*2404insAA
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