Canonical Allele Identifier: CA2244625806

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933883_4933957delinsACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAG , CM000679.2:g.4933883_4933957delinsACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAG	GRCh38
NC_000017.10:g.4837178_4837252delinsACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAG , CM000679.1:g.4837178_4837252delinsACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAG	GRCh37
NG_008767.2:g.6589_6663delinsACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1279_1353delinsACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAG (GP1BA) MANE Select	ENSP00000329380.5:p.Thr427=
ENST00000649830.1:c.-888+385_-888+459delinsCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGT (CHRNE)	ENSP00000496907.1:n.-888+385_-888+459delinsCTCCGGGGTGGTCGGGCT...
ENST00000329125.5:c.1279_1353delinsACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAG (GP1BA)	ENSP00000329380.5:p.Thr427=
ENST00000611961.1:c.1272+7_1275delinsACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAG (GP1BA)
NM_000173.6:c.1279_1353delinsACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAG (GP1BA)	NP_000164.5:p.Thr427=
NM_000173.7:c.1279_1353delinsACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAG (GP1BA) MANE Select	NP_000164.5:p.Thr427=