Canonical Allele Identifier: CA2573320489

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149885_10149887del , CM000665.2:g.10149885_10149887del	GRCh38
NC_000003.11:g.10191569_10191571del , CM000665.1:g.10191569_10191571del	GRCh37
NC_000003.10:g.10166569_10166571del	NCBI36
NG_008212.3:g.13251_13253del , LRG_322:g.13251_13253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*239_*241del	ENSP00000512434.1:n.*239_*241del
ENST00000696143.1:c.698_700del	ENSP00000512435.1:n.698_700del
ENST00000696153.1:c.673_675del	ENSP00000512444.1:p.Leu225del
ENST00000256474.3:c.562_564del MANE Select	ENSP00000256474.3:p.Leu188del
ENST00000256474.2:c.562_564del	ENSP00000256474.2:p.Leu188del
ENST00000345392.2:c.439_441del	ENSP00000344757.2:p.Leu147del
ENST00000477538.1:n.698_700del
NM_000551.3:c.562_564del , LRG_322t1:c.562_564del	NP_000542.1:p.Leu188del
NM_198156.2:c.439_441del	NP_937799.1:p.Leu147del
NM_001354723.1:c.*116_*118del	NP_001341652.1:n.*116_*118del
NM_000551.4:c.562_564del MANE Select	NP_000542.1:p.Leu188del
NM_001354723.2:c.*116_*118del	NP_001341652.1:n.*116_*118del
NM_198156.3:c.439_441del	NP_937799.1:p.Leu147del