Canonical Allele Identifier: CA2244625297

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932791_4932792delinsTC , CM000679.2:g.4932791_4932792delinsTC	GRCh38
NC_000017.10:g.4836086_4836087delinsTC , CM000679.1:g.4836086_4836087delinsTC	GRCh37
NC_000017.9:g.4776866_4776867delinsTC	NCBI36
NG_008767.2:g.5497_5498delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.187_188delinsTC (GP1BA) MANE Select	ENSP00000329380.5:p.Ser63=
ENST00000649830.1:c.-888+1550_-888+1551delinsGA (CHRNE)	ENSP00000496907.1:n.-888+1550_-888+1551delinsGA
ENST00000329125.5:c.187_188delinsTC (GP1BA)	ENSP00000329380.5:p.Ser63=
ENST00000611961.1:c.187_188delinsTC (GP1BA)	ENSP00000484439.1:p.Ser63=
NM_000173.6:c.187_188delinsTC (GP1BA)	NP_000164.5:p.Ser63=
NM_000173.7:c.187_188delinsTC (GP1BA) MANE Select	NP_000164.5:p.Ser63=