Canonical Allele Identifier: CA2244625899

Gene: GP1BA CHRNE

Linked Data

• dbSNP Id: rs1970385003

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933966_4933967insG , CM000679.2:g.4933966_4933967insG	GRCh38
NC_000017.10:g.4837261_4837262insG , CM000679.1:g.4837261_4837262insG	GRCh37
NC_000017.9:g.4778002_4778003insG	NCBI36
NG_008767.2:g.6672_6673insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1362_1363insG (GP1BA) MANE Select	ENSP00000329380.5:p.Ile455AspfsTer?
ENST00000649830.1:c.-888+375_-888+376insC (CHRNE)	ENSP00000496907.1:n.-888+375_-888+376insC
ENST00000329125.5:c.1362_1363insG (GP1BA)	ENSP00000329380.5:p.Ile455AspfsTer?
ENST00000611961.1:c.1284_1285insG (GP1BA)	ENSP00000484439.1:p.Ile429AspfsTer?
NM_000173.6:c.1362_1363insG (GP1BA)	NP_000164.5:p.Ile455AspfsTer?
NM_000173.7:c.1362_1363insG (GP1BA) MANE Select	NP_000164.5:p.Ile455AspfsTer?