Canonical Allele Identifier: CA2635579216

Gene: GP1BA CHRNE

Linked Data

• gnomAD v4: 17-4933914-CAGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933915_4933918del , CM000679.2:g.4933915_4933918del	GRCh38
NC_000017.10:g.4837210_4837213del , CM000679.1:g.4837210_4837213del	GRCh37
NG_008767.2:g.6621_6624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1311_1314del (GP1BA) MANE Select	ENSP00000329380.5:p.Glu438ProfsTer?
ENST00000649830.1:c.-888+424_-888+427del (CHRNE)	ENSP00000496907.1:n.-888+424_-888+427del
ENST00000329125.5:c.1311_1314del (GP1BA)	ENSP00000329380.5:p.Glu438ProfsTer?
ENST00000611961.1:c.1273-40_1273-37del (GP1BA)	ENSP00000484439.1:n.1273-40_1273-37del
NM_000173.6:c.1311_1314del (GP1BA)	NP_000164.5:p.Glu438ProfsTer?
NM_000173.7:c.1311_1314del (GP1BA) MANE Select	NP_000164.5:p.Glu438ProfsTer?