Canonical Allele Identifier: CA2573105861

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149854_10149867del , CM000665.2:g.10149854_10149867del	GRCh38
NC_000003.11:g.10191538_10191551del , CM000665.1:g.10191538_10191551del	GRCh37
NC_000003.10:g.10166538_10166551del	NCBI36
NG_008212.3:g.13220_13233del , LRG_322:g.13220_13233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*208_*221del	ENSP00000512434.1:n.*208_*221del
ENST00000696143.1:c.667_680del	ENSP00000512435.1:n.667_680del
ENST00000696153.1:c.642_655del	ENSP00000512444.1:p.Leu215ValfsTer?
ENST00000256474.3:c.531_544del MANE Select	ENSP00000256474.3:p.Leu178ValfsTer?
ENST00000256474.2:c.531_544del	ENSP00000256474.2:p.Leu178ValfsTer?
ENST00000345392.2:c.408_421del	ENSP00000344757.2:p.Leu137ValfsTer?
ENST00000477538.1:n.667_680del
NM_000551.3:c.531_544del , LRG_322t1:c.531_544del	NP_000542.1:p.Leu178ValfsTer?
NM_198156.2:c.408_421del	NP_937799.1:p.Leu137ValfsTer?
NM_001354723.1:c.*85_*98del	NP_001341652.1:n.*85_*98del
NM_000551.4:c.531_544del MANE Select	NP_000542.1:p.Leu178ValfsTer?
NM_001354723.2:c.*85_*98del	NP_001341652.1:n.*85_*98del
NM_198156.3:c.408_421del	NP_937799.1:p.Leu137ValfsTer?