Canonical Allele Identifier: CA2576136028

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933901dup , CM000679.2:g.4933901dup	GRCh38
NC_000017.10:g.4837196dup , CM000679.1:g.4837196dup	GRCh37
NG_008767.2:g.6607dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1297dup (GP1BA) MANE Select	ENSP00000329380.5:p.Ser433LysfsTer?
ENST00000649830.1:c.-888+441dup (CHRNE)	ENSP00000496907.1:n.-888+441dup
ENST00000329125.5:c.1297dup (GP1BA)	ENSP00000329380.5:p.Ser433LysfsTer?
ENST00000611961.1:c.1272+25dup (GP1BA)	ENSP00000484439.1:n.1272+25dup
NM_000173.6:c.1297dup (GP1BA)	NP_000164.5:p.Ser433LysfsTer?
NM_000173.7:c.1297dup (GP1BA) MANE Select	NP_000164.5:p.Ser433LysfsTer?