Canonical Allele Identifier: CA1045001852

Gene: VHL

Linked Data

• gnomAD v3: 3-10153277-CAA-C
• gnomAD v4: 3-10153277-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153287_10153288del , CM000665.2:g.10153287_10153288del	GRCh38
NC_000003.11:g.10194971_10194972del , CM000665.1:g.10194971_10194972del	GRCh37
NC_000003.10:g.10169971_10169972del	NCBI36
NG_008212.3:g.16653_16654del , LRG_322:g.16653_16654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3322_*3323del	ENSP00000512444.1:n.*3322_*3323del
ENST00000256474.3:c.*3322_*3323del MANE Select	ENSP00000256474.3:n.*3322_*3323del
NM_000551.3:c.*3322_*3323del , LRG_322t1:c.*3322_*3323del	NP_000542.1:n.*3322_*3323del
NM_198156.2:c.*3322_*3323del	NP_937799.1:n.*3322_*3323del
NM_001354723.1:c.*3518_*3519del	NP_001341652.1:n.*3518_*3519del
NM_000551.4:c.*3322_*3323del MANE Select	NP_000542.1:n.*3322_*3323del
NM_001354723.2:c.*3518_*3519del	NP_001341652.1:n.*3518_*3519del
NM_198156.3:c.*3322_*3323del	NP_937799.1:n.*3322_*3323del