Canonical Allele Identifier: CA2739292378

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149844_10149854del , CM000665.2:g.10149844_10149854del	GRCh38
NC_000003.11:g.10191528_10191538del , CM000665.1:g.10191528_10191538del	GRCh37
NC_000003.10:g.10166528_10166538del	NCBI36
NG_008212.3:g.13210_13220del , LRG_322:g.13210_13220del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*198_*208del	ENSP00000512434.1:n.*198_*208del
ENST00000696143.1:c.657_667del	ENSP00000512435.1:n.657_667del
ENST00000696153.1:c.632_642del	ENSP00000512444.1:p.Asn211ThrfsTer?
ENST00000256474.3:c.521_531del MANE Select	ENSP00000256474.3:p.Asn174ThrfsTer?
ENST00000256474.2:c.521_531del	ENSP00000256474.2:p.Asn174ThrfsTer?
ENST00000345392.2:c.398_408del	ENSP00000344757.2:p.Asn133ThrfsTer?
ENST00000477538.1:n.657_667del
NM_000551.3:c.521_531del , LRG_322t1:c.521_531del	NP_000542.1:p.Asn174ThrfsTer?
NM_198156.2:c.398_408del	NP_937799.1:p.Asn133ThrfsTer?
NM_001354723.1:c.*75_*85del	NP_001341652.1:n.*75_*85del
NM_000551.4:c.521_531del MANE Select	NP_000542.1:p.Asn174ThrfsTer?
NM_001354723.2:c.*75_*85del	NP_001341652.1:n.*75_*85del
NM_198156.3:c.398_408del	NP_937799.1:p.Asn133ThrfsTer?