Canonical Allele Identifier: CA2244625636

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933613_4933614delinsCA , CM000679.2:g.4933613_4933614delinsCA	GRCh38
NC_000017.10:g.4836908_4836909delinsCA , CM000679.1:g.4836908_4836909delinsCA	GRCh37
NC_000017.9:g.4777688_4777689delinsCA	NCBI36
NG_008767.2:g.6319_6320delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1009_1010delinsCA (GP1BA) MANE Select	ENSP00000329380.5:p.Gln337=
ENST00000649830.1:c.-888+728_-888+729delinsTG (CHRNE)	ENSP00000496907.1:n.-888+728_-888+729delinsTG
ENST00000329125.5:c.1009_1010delinsCA (GP1BA)	ENSP00000329380.5:p.Gln337=
ENST00000611961.1:c.1009_1010delinsCA (GP1BA)	ENSP00000484439.1:p.Gln337=
NM_000173.6:c.1009_1010delinsCA (GP1BA)	NP_000164.5:p.Gln337=
NM_000173.7:c.1009_1010delinsCA (GP1BA) MANE Select	NP_000164.5:p.Gln337=