Canonical Allele Identifier: CA2244625881

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933941_4933968delinsGCCCGACCACCCCGGAGCCCACCCCAAT , CM000679.2:g.4933941_4933968delinsGCCCGACCACCCCGGAGCCCACCCCAAT	GRCh38
NC_000017.10:g.4837236_4837263delinsGCCCGACCACCCCGGAGCCCACCCCAAT , CM000679.1:g.4837236_4837263delinsGCCCGACCACCCCGGAGCCCACCCCAAT	GRCh37
NC_000017.9:g.4777977_4778004delinsGCCCGACCACCCCGGAGCCCACCCCAAT	NCBI36
NG_008767.2:g.6647_6674delinsGCCCGACCACCCCGGAGCCCACCCCAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1337_1364delinsGCCCGACCACCCCGGAGCCCACCCCAAT (GP1BA) MANE Select	ENSP00000329380.5:p.Ser446=
ENST00000649830.1:c.-888+374_-888+401delinsATTGGGGTGGGCTCCGGGGTGGTCGGGC (CHRNE)	ENSP00000496907.1:n.-888+374_-888+401delinsATTGGGGTGGGCTCCGGG...
ENST00000329125.5:c.1337_1364delinsGCCCGACCACCCCGGAGCCCACCCCAAT (GP1BA)	ENSP00000329380.5:p.Ser446=
ENST00000611961.1:c.1273-14_1286delinsGCCCGACCACCCCGGAGCCCACCCCAAT (GP1BA)
NM_000173.6:c.1337_1364delinsGCCCGACCACCCCGGAGCCCACCCCAAT (GP1BA)	NP_000164.5:p.Ser446=
NM_000173.7:c.1337_1364delinsGCCCGACCACCCCGGAGCCCACCCCAAT (GP1BA) MANE Select	NP_000164.5:p.Ser446=