Canonical Allele Identifier: CA2573050816

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142078_10142079insTCT , CM000665.2:g.10142078_10142079insTCT	GRCh38
NC_000003.11:g.10183762_10183763insTCT , CM000665.1:g.10183762_10183763insTCT	GRCh37
NC_000003.10:g.10158762_10158763insTCT	NCBI36
NG_008212.3:g.5444_5445insTCT , LRG_322:g.5444_5445insTCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.231_232insTCT	ENSP00000512434.1:p.Cys77_Asn78insSer
ENST00000696143.1:c.231_232insTCT	ENSP00000512435.1:p.Cys77_Asn78insSer
ENST00000696153.1:c.231_232insTCT	ENSP00000512444.1:p.Cys77_Asn78insSer
ENST00000256474.3:c.231_232insTCT MANE Select	ENSP00000256474.3:p.Cys77_Asn78insSer
ENST00000256474.2:c.231_232insTCT	ENSP00000256474.2:p.Cys77_Asn78insSer
ENST00000345392.2:c.231_232insTCT	ENSP00000344757.2:p.Cys77_Asn78insSer
NM_000551.3:c.231_232insTCT , LRG_322t1:c.231_232insTCT	NP_000542.1:p.Cys77_Asn78insSer
NM_198156.2:c.231_232insTCT	NP_937799.1:p.Cys77_Asn78insSer
XM_011534078.1:c.231_232insTCT	XP_011532380.1:p.Cys77_Asn78insSer
NM_001354723.1:c.231_232insTCT	NP_001341652.1:p.Cys77_Asn78insSer
NM_000551.4:c.231_232insTCT MANE Select	NP_000542.1:p.Cys77_Asn78insSer
NM_001354723.2:c.231_232insTCT	NP_001341652.1:p.Cys77_Asn78insSer
NM_198156.3:c.231_232insTCT	NP_937799.1:p.Cys77_Asn78insSer