Canonical Allele Identifier: CA2573136083

Gene: VHL

Linked Data

• dbSNP Id: rs2125124378

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141850_10141851insGTCTCC , CM000665.2:g.10141850_10141851insGTCTCC	GRCh38
NC_000003.11:g.10183534_10183535insGTCTCC , CM000665.1:g.10183534_10183535insGTCTCC	GRCh37
NC_000003.10:g.10158534_10158535insGTCTCC	NCBI36
NG_008212.3:g.5216_5217insGTCTCC , LRG_322:g.5216_5217insGTCTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.3_4insGTCTCC	ENSP00000512434.1:p.Met1_Pro2insValSer
ENST00000696143.1:c.3_4insGTCTCC	ENSP00000512435.1:p.Met1_Pro2insValSer
ENST00000696153.1:c.3_4insGTCTCC	ENSP00000512444.1:p.Met1_Pro2insValSer
ENST00000256474.3:c.3_4insGTCTCC MANE Select	ENSP00000256474.3:p.Met1_Pro2insValSer
ENST00000256474.2:c.3_4insGTCTCC	ENSP00000256474.2:p.Met1_Pro2insValSer
ENST00000345392.2:c.3_4insGTCTCC	ENSP00000344757.2:p.Met1_Pro2insValSer
NM_000551.3:c.3_4insGTCTCC , LRG_322t1:c.3_4insGTCTCC	NP_000542.1:p.Met1_Pro2insValSer
NM_198156.2:c.3_4insGTCTCC	NP_937799.1:p.Met1_Pro2insValSer
XM_011534078.1:c.3_4insGTCTCC	XP_011532380.1:p.Met1_Pro2insValSer
NM_001354723.1:c.3_4insGTCTCC	NP_001341652.1:p.Met1_Pro2insValSer
NM_000551.4:c.3_4insGTCTCC MANE Select	NP_000542.1:p.Met1_Pro2insValSer
NM_001354723.2:c.3_4insGTCTCC	NP_001341652.1:p.Met1_Pro2insValSer
NM_198156.3:c.3_4insGTCTCC	NP_937799.1:p.Met1_Pro2insValSer