Canonical Allele Identifier: CA2244625765

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933847_4933884delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC , CM000679.2:g.4933847_4933884delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC	GRCh38
NC_000017.10:g.4837142_4837179delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC , CM000679.1:g.4837142_4837179delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC	GRCh37
NG_008767.2:g.6553_6590delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1243_1280delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC (GP1BA) MANE Select	ENSP00000329380.5:p.Ser415=
ENST00000649830.1:c.-888+458_-888+495delinsGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGA (CHRNE)	ENSP00000496907.1:n.-888+458_-888+495delinsGTGGGCTCCGGGGTGGTC...
ENST00000329125.5:c.1243_1280delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC (GP1BA)	ENSP00000329380.5:p.Ser415=
ENST00000611961.1:c.1243_1272+8delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC (GP1BA)
NM_000173.6:c.1243_1280delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC (GP1BA)	NP_000164.5:p.Ser415=
NM_000173.7:c.1243_1280delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC (GP1BA) MANE Select	NP_000164.5:p.Ser415=