Canonical Allele Identifier: CA2244625962

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4934091_4934097delinsCTGAACT , CM000679.2:g.4934091_4934097delinsCTGAACT	GRCh38
NC_000017.10:g.4837386_4837392delinsCTGAACT , CM000679.1:g.4837386_4837392delinsCTGAACT	GRCh37
NC_000017.9:g.4778127_4778133delinsCTGAACT	NCBI36
NG_008767.2:g.6797_6803delinsCTGAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1487_1493delinsCTGAACT (GP1BA) MANE Select	ENSP00000329380.5:p.Pro496=
ENST00000649830.1:c.-888+245_-888+251delinsAGTTCAG (CHRNE)	ENSP00000496907.1:n.-888+245_-888+251delinsAGTTCAG
ENST00000329125.5:c.1487_1493delinsCTGAACT (GP1BA)	ENSP00000329380.5:p.Pro496=
ENST00000611961.1:c.1409_1415delinsCTGAACT (GP1BA)	ENSP00000484439.1:p.Pro470=
NM_000173.6:c.1487_1493delinsCTGAACT (GP1BA)	NP_000164.5:p.Pro496=
NM_000173.7:c.1487_1493delinsCTGAACT (GP1BA) MANE Select	NP_000164.5:p.Pro496=