Canonical Allele Identifier: CA2664400351

Gene: VHL

Linked Data

• gnomAD v4: 3-10150389-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150391_10150392del , CM000665.2:g.10150391_10150392del	GRCh38
NC_000003.11:g.10192075_10192076del , CM000665.1:g.10192075_10192076del	GRCh37
NC_000003.10:g.10167075_10167076del	NCBI36
NG_008212.3:g.13757_13758del , LRG_322:g.13757_13758del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*745_*746del	ENSP00000512434.1:n.*745_*746del
ENST00000696143.1:c.1204_1205del	ENSP00000512435.1:n.1204_1205del
ENST00000696153.1:c.*426_*427del	ENSP00000512444.1:n.*426_*427del
ENST00000256474.3:c.*426_*427del MANE Select	ENSP00000256474.3:n.*426_*427del
ENST00000256474.2:c.*426_*427del	ENSP00000256474.2:n.*426_*427del
ENST00000345392.2:c.*426_*427del	ENSP00000344757.2:n.*426_*427del
NM_000551.3:c.*426_*427del , LRG_322t1:c.*426_*427del	NP_000542.1:n.*426_*427del
NM_198156.2:c.*426_*427del	NP_937799.1:n.*426_*427del
NM_001354723.1:c.*622_*623del	NP_001341652.1:n.*622_*623del
NM_000551.4:c.*426_*427del MANE Select	NP_000542.1:n.*426_*427del
NM_001354723.2:c.*622_*623del	NP_001341652.1:n.*622_*623del
NM_198156.3:c.*426_*427del	NP_937799.1:n.*426_*427del