Canonical Allele Identifier: CA2573320338

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149888_10149893del , CM000665.2:g.10149888_10149893del	GRCh38
NC_000003.11:g.10191572_10191577del , CM000665.1:g.10191572_10191577del	GRCh37
NC_000003.10:g.10166572_10166577del	NCBI36
NG_008212.3:g.13254_13259del , LRG_322:g.13254_13259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*242_*247del	ENSP00000512434.1:n.*242_*247del
ENST00000696143.1:c.701_706del	ENSP00000512435.1:n.701_706del
ENST00000696153.1:c.676_681del	ENSP00000512444.1:p.Glu226_Asp227del
ENST00000256474.3:c.565_570del MANE Select	ENSP00000256474.3:p.Glu189_Asp190del
ENST00000256474.2:c.565_570del	ENSP00000256474.2:p.Glu189_Asp190del
ENST00000345392.2:c.442_447del	ENSP00000344757.2:p.Glu148_Asp149del
ENST00000477538.1:n.701_706del
NM_000551.3:c.565_570del , LRG_322t1:c.565_570del	NP_000542.1:p.Glu189_Asp190del
NM_198156.2:c.442_447del	NP_937799.1:p.Glu148_Asp149del
NM_001354723.1:c.*119_*124del	NP_001341652.1:n.*119_*124del
NM_000551.4:c.565_570del MANE Select	NP_000542.1:p.Glu189_Asp190del
NM_001354723.2:c.*119_*124del	NP_001341652.1:n.*119_*124del
NM_198156.3:c.442_447del	NP_937799.1:p.Glu148_Asp149del