Canonical Allele Identifier: CA2244625798

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933878_4933882delinsAGCCC , CM000679.2:g.4933878_4933882delinsAGCCC	GRCh38
NC_000017.10:g.4837173_4837177delinsAGCCC , CM000679.1:g.4837173_4837177delinsAGCCC	GRCh37
NG_008767.2:g.6584_6588delinsAGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1274_1278delinsAGCCC (GP1BA) MANE Select	ENSP00000329380.5:p.Glu425=
ENST00000649830.1:c.-888+460_-888+464delinsGGGCT (CHRNE)	ENSP00000496907.1:n.-888+460_-888+464delinsGGGCT
ENST00000329125.5:c.1274_1278delinsAGCCC (GP1BA)	ENSP00000329380.5:p.Glu425=
ENST00000611961.1:c.1272+2_1272+6delinsAGCCC (GP1BA)	ENSP00000484439.1:n.1272+2_1272+6delinsAGCCC
NM_000173.6:c.1274_1278delinsAGCCC (GP1BA)	NP_000164.5:p.Glu425=
NM_000173.7:c.1274_1278delinsAGCCC (GP1BA) MANE Select	NP_000164.5:p.Glu425=