Canonical Allele Identifier: CA2576136010

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932540_4932546dup , CM000679.2:g.4932540_4932546dup	GRCh38
NC_000017.10:g.4835835_4835841dup , CM000679.1:g.4835835_4835841dup	GRCh37
NC_000017.9:g.4776615_4776621dup	NCBI36
NG_008767.2:g.5246_5252dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.-6-59_-6-53dup (GP1BA) MANE Select	ENSP00000329380.5:n.-6-59_-6-53dup
ENST00000649830.1:c.-888+1802_-888+1808dup (CHRNE)	ENSP00000496907.1:n.-888+1802_-888+1808dup
ENST00000329125.5:c.-6-59_-6-53dup (GP1BA)	ENSP00000329380.5:n.-6-59_-6-53dup
ENST00000611961.1:c.-6-59_-6-53dup (GP1BA)	ENSP00000484439.1:n.-6-59_-6-53dup
NM_000173.6:c.-6-59_-6-53dup (GP1BA)	NP_000164.5:n.-6-59_-6-53dup
NM_000173.7:c.-6-59_-6-53dup (GP1BA) MANE Select	NP_000164.5:n.-6-59_-6-53dup