Canonical Allele Identifier: CA2664402520

Gene: VHL

Linked Data

• gnomAD v4: 3-10151992-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10151994del , CM000665.2:g.10151994del	GRCh38
NC_000003.11:g.10193678del , CM000665.1:g.10193678del	GRCh37
NC_000003.10:g.10168678del	NCBI36
NG_008212.3:g.15360del , LRG_322:g.15360del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696143.1:c.2807del	ENSP00000512435.1:n.2807del
ENST00000696153.1:c.*2029del	ENSP00000512444.1:n.*2029del
ENST00000256474.3:c.*2029del MANE Select	ENSP00000256474.3:n.*2029del
ENST00000256474.2:c.*2029del	ENSP00000256474.2:n.*2029del
ENST00000345392.2:c.*2029del	ENSP00000344757.2:n.*2029del
NM_000551.3:c.*2029del , LRG_322t1:c.*2029del	NP_000542.1:n.*2029del
NM_198156.2:c.*2029del	NP_937799.1:n.*2029del
NM_001354723.1:c.*2225del	NP_001341652.1:n.*2225del
NM_000551.4:c.*2029del MANE Select	NP_000542.1:n.*2029del
NM_001354723.2:c.*2225del	NP_001341652.1:n.*2225del
NM_198156.3:c.*2029del	NP_937799.1:n.*2029del