Canonical Allele Identifier: CA2577505295

Gene: VHL

Linked Data

• gnomAD v4: 3-10150292-GTTTAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150298_10150303del , CM000665.2:g.10150298_10150303del	GRCh38
NC_000003.11:g.10191982_10191987del , CM000665.1:g.10191982_10191987del	GRCh37
NC_000003.10:g.10166982_10166987del	NCBI36
NG_008212.3:g.13664_13669del , LRG_322:g.13664_13669del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*652_*657del	ENSP00000512434.1:n.*652_*657del
ENST00000696143.1:c.1111_1116del	ENSP00000512435.1:n.1111_1116del
ENST00000696153.1:c.*333_*338del	ENSP00000512444.1:n.*333_*338del
ENST00000256474.3:c.*333_*338del MANE Select	ENSP00000256474.3:n.*333_*338del
ENST00000256474.2:c.*333_*338del	ENSP00000256474.2:n.*333_*338del
ENST00000345392.2:c.*333_*338del	ENSP00000344757.2:n.*333_*338del
NM_000551.3:c.*333_*338del , LRG_322t1:c.*333_*338del	NP_000542.1:n.*333_*338del
NM_198156.2:c.*333_*338del	NP_937799.1:n.*333_*338del
NM_001354723.1:c.*529_*534del	NP_001341652.1:n.*529_*534del
NM_000551.4:c.*333_*338del MANE Select	NP_000542.1:n.*333_*338del
NM_001354723.2:c.*529_*534del	NP_001341652.1:n.*529_*534del
NM_198156.3:c.*333_*338del	NP_937799.1:n.*333_*338del