Canonical Allele Identifier: CA1045000892

Gene: VHL

Linked Data

• dbSNP Id: rs1696434674
• gnomAD v3: 3-10152466-C-CT
• gnomAD v4: 3-10152466-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152466_10152467insT , CM000665.2:g.10152466_10152467insT	GRCh38
NC_000003.11:g.10194150_10194151insT , CM000665.1:g.10194150_10194151insT	GRCh37
NC_000003.10:g.10169150_10169151insT	NCBI36
NG_008212.3:g.15832_15833insT , LRG_322:g.15832_15833insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2501_*2502insT	ENSP00000512444.1:n.*2501_*2502insT
ENST00000256474.3:c.*2501_*2502insT MANE Select	ENSP00000256474.3:n.*2501_*2502insT
NM_000551.3:c.*2501_*2502insT , LRG_322t1:c.*2501_*2502insT	NP_000542.1:n.*2501_*2502insT
NM_198156.2:c.*2501_*2502insT	NP_937799.1:n.*2501_*2502insT
NM_001354723.1:c.*2697_*2698insT	NP_001341652.1:n.*2697_*2698insT
NM_000551.4:c.*2501_*2502insT MANE Select	NP_000542.1:n.*2501_*2502insT
NM_001354723.2:c.*2697_*2698insT	NP_001341652.1:n.*2697_*2698insT
NM_198156.3:c.*2501_*2502insT	NP_937799.1:n.*2501_*2502insT