Canonical Allele Identifier: CA2695224137

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932758dup , CM000679.2:g.4932758dup	GRCh38
NC_000017.10:g.4836053dup , CM000679.1:g.4836053dup	GRCh37
NC_000017.9:g.4776833dup	NCBI36
NG_008767.2:g.5464dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.154dup (GP1BA) MANE Select	ENSP00000329380.5:p.Leu52ProfsTer5
ENST00000649830.1:c.-888+1585dup (CHRNE)	ENSP00000496907.1:n.-888+1585dup
ENST00000329125.5:c.154dup (GP1BA)	ENSP00000329380.5:p.Leu52ProfsTer5
ENST00000611961.1:c.154dup (GP1BA)	ENSP00000484439.1:p.Leu52ProfsTer5
NM_000173.6:c.154dup (GP1BA)	NP_000164.5:p.Leu52ProfsTer5
NM_000173.7:c.154dup (GP1BA) MANE Select	NP_000164.5:p.Leu52ProfsTer5