Canonical Allele Identifier: CA2244625812

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933886_4933960delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCC , CM000679.2:g.4933886_4933960delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCC	GRCh38
NC_000017.10:g.4837181_4837255delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCC , CM000679.1:g.4837181_4837255delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCC	GRCh37
NG_008767.2:g.6592_6666delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1282_1356delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCC (GP1BA) MANE Select	ENSP00000329380.5:p.Ser428=
ENST00000649830.1:c.-888+382_-888+456delinsGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGA (CHRNE)	ENSP00000496907.1:n.-888+382_-888+456delinsGGGCTCCGGGGTGGTCGG...
ENST00000329125.5:c.1282_1356delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCC (GP1BA)	ENSP00000329380.5:p.Ser428=
ENST00000611961.1:c.1272+10_1278delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCC (GP1BA)
NM_000173.6:c.1282_1356delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCC (GP1BA)	NP_000164.5:p.Ser428=
NM_000173.7:c.1282_1356delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCC (GP1BA) MANE Select	NP_000164.5:p.Ser428=