Canonical Allele Identifier: CA2664401543

Gene: VHL

Linked Data

• gnomAD v4: 3-10151129-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10151130del , CM000665.2:g.10151130del	GRCh38
NC_000003.11:g.10192814del , CM000665.1:g.10192814del	GRCh37
NC_000003.10:g.10167814del	NCBI36
NG_008212.3:g.14496del , LRG_322:g.14496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*1484del	ENSP00000512434.1:n.*1484del
ENST00000696143.1:c.1943del	ENSP00000512435.1:n.1943del
ENST00000696153.1:c.*1165del	ENSP00000512444.1:n.*1165del
ENST00000256474.3:c.*1165del MANE Select	ENSP00000256474.3:n.*1165del
ENST00000256474.2:c.*1165del	ENSP00000256474.2:n.*1165del
ENST00000345392.2:c.*1165del	ENSP00000344757.2:n.*1165del
NM_000551.3:c.*1165del , LRG_322t1:c.*1165del	NP_000542.1:n.*1165del
NM_198156.2:c.*1165del	NP_937799.1:n.*1165del
NM_001354723.1:c.*1361del	NP_001341652.1:n.*1361del
NM_000551.4:c.*1165del MANE Select	NP_000542.1:n.*1165del
NM_001354723.2:c.*1361del	NP_001341652.1:n.*1361del
NM_198156.3:c.*1165del	NP_937799.1:n.*1165del