Canonical Allele Identifier: CA2244625864

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933925_4933941delinsTCAGAGCCCGCCCCCAG , CM000679.2:g.4933925_4933941delinsTCAGAGCCCGCCCCCAG	GRCh38
NC_000017.10:g.4837220_4837236delinsTCAGAGCCCGCCCCCAG , CM000679.1:g.4837220_4837236delinsTCAGAGCCCGCCCCCAG	GRCh37
NC_000017.9:g.4777961_4777977delinsTCAGAGCCCGCCCCCAG	NCBI36
NG_008767.2:g.6631_6647delinsTCAGAGCCCGCCCCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1321_1337delinsTCAGAGCCCGCCCCCAG (GP1BA) MANE Select	ENSP00000329380.5:p.Ser441=
ENST00000649830.1:c.-888+401_-888+417delinsCTGGGGGCGGGCTCTGA (CHRNE)	ENSP00000496907.1:n.-888+401_-888+417delinsCTGGGGGCGGGCTCTGA
ENST00000329125.5:c.1321_1337delinsTCAGAGCCCGCCCCCAG (GP1BA)	ENSP00000329380.5:p.Ser441=
ENST00000611961.1:c.1273-30_1273-14delinsTCAGAGCCCGCCCCCAG (GP1BA)	ENSP00000484439.1:n.1273-30_1273-14delinsTCAGAGCCCGCCCCCAG
NM_000173.6:c.1321_1337delinsTCAGAGCCCGCCCCCAG (GP1BA)	NP_000164.5:p.Ser441=
NM_000173.7:c.1321_1337delinsTCAGAGCCCGCCCCCAG (GP1BA) MANE Select	NP_000164.5:p.Ser441=