Canonical Allele Identifier: CA397320776

Gene: GP1BA CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4933890del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933890del , CM000679.2:g.4933890del	GRCh38
NC_000017.10:g.4837185del , CM000679.1:g.4837185del	GRCh37
NG_008767.2:g.6596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1286del (GP1BA) MANE Select	ENSP00000329380.5:p.Glu429GlyfsTer?
ENST00000649830.1:c.-888+452del (CHRNE)	ENSP00000496907.1:n.-888+452del
ENST00000329125.5:c.1286del (GP1BA)	ENSP00000329380.5:p.Glu429GlyfsTer?
ENST00000611961.1:c.1272+14del (GP1BA)	ENSP00000484439.1:n.1272+14del
NM_000173.6:c.1286del (GP1BA)	NP_000164.5:p.Glu429GlyfsTer?
NM_000173.7:c.1286del (GP1BA) MANE Select	NP_000164.5:p.Glu429GlyfsTer?