Canonical Allele Identifier: CA2573320246

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149796_10149797insTTT , CM000665.2:g.10149796_10149797insTTT	GRCh38
NC_000003.11:g.10191480_10191481insTTT , CM000665.1:g.10191480_10191481insTTT	GRCh37
NC_000003.10:g.10166480_10166481insTTT	NCBI36
NG_008212.3:g.13162_13163insTTT , LRG_322:g.13162_13163insTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*150_*151insTTT	ENSP00000512434.1:n.*150_*151insTTT
ENST00000696143.1:c.609_610insTTT	ENSP00000512435.1:n.609_610insTTT
ENST00000696153.1:c.584_585insTTT	ENSP00000512444.1:p.Leu195_Lys196insLeu
ENST00000256474.3:c.473_474insTTT MANE Select	ENSP00000256474.3:p.Leu158_Lys159insLeu
ENST00000256474.2:c.473_474insTTT	ENSP00000256474.2:p.Leu158_Lys159insLeu
ENST00000345392.2:c.350_351insTTT	ENSP00000344757.2:p.Leu117_Lys118insLeu
ENST00000477538.1:n.609_610insTTT
NM_000551.3:c.473_474insTTT , LRG_322t1:c.473_474insTTT	NP_000542.1:p.Leu158_Lys159insLeu
NM_198156.2:c.350_351insTTT	NP_937799.1:p.Leu117_Lys118insLeu
NM_001354723.1:c.*27_*28insTTT	NP_001341652.1:n.*27_*28insTTT
NM_000551.4:c.473_474insTTT MANE Select	NP_000542.1:p.Leu158_Lys159insLeu
NM_001354723.2:c.*27_*28insTTT	NP_001341652.1:n.*27_*28insTTT
NM_198156.3:c.350_351insTTT	NP_937799.1:p.Leu117_Lys118insLeu