Canonical Allele Identifier: CA2244625443

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933120_4933123delinsTAAC , CM000679.2:g.4933120_4933123delinsTAAC	GRCh38
NC_000017.10:g.4836415_4836418delinsTAAC , CM000679.1:g.4836415_4836418delinsTAAC	GRCh37
NC_000017.9:g.4777195_4777198delinsTAAC	NCBI36
NG_008767.2:g.5826_5829delinsTAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.516_519delinsTAAC (GP1BA) MANE Select	ENSP00000329380.5:p.Ala172=
ENST00000649830.1:c.-888+1219_-888+1222delinsGTTA (CHRNE)	ENSP00000496907.1:n.-888+1219_-888+1222delinsGTTA
ENST00000329125.5:c.516_519delinsTAAC (GP1BA)	ENSP00000329380.5:p.Ala172=
ENST00000611961.1:c.516_519delinsTAAC (GP1BA)	ENSP00000484439.1:p.Ala172=
NM_000173.6:c.516_519delinsTAAC (GP1BA)	NP_000164.5:p.Ala172=
NM_000173.7:c.516_519delinsTAAC (GP1BA) MANE Select	NP_000164.5:p.Ala172=