Canonical Allele Identifier: CA2695224153

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4934069del , CM000679.2:g.4934069del	GRCh38
NC_000017.10:g.4837364del , CM000679.1:g.4837364del	GRCh37
NC_000017.9:g.4778105del	NCBI36
NG_008767.2:g.6775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1465del (GP1BA) MANE Select	ENSP00000329380.5:p.Glu489AsnfsTer?
ENST00000649830.1:c.-888+273del (CHRNE)	ENSP00000496907.1:n.-888+273del
ENST00000329125.5:c.1465del (GP1BA)	ENSP00000329380.5:p.Glu489AsnfsTer?
ENST00000611961.1:c.1387del (GP1BA)	ENSP00000484439.1:p.Glu463AsnfsTer?
NM_000173.6:c.1465del (GP1BA)	NP_000164.5:p.Glu489AsnfsTer?
NM_000173.7:c.1465del (GP1BA) MANE Select	NP_000164.5:p.Glu489AsnfsTer?