Canonical Allele Identifier: CA497678027

Gene: GP1BA CHRNE

Linked Data

• dbSNP Id: rs1555549238
• gnomAD v4: 17-4933885-CTCAGAG-C
• MyVariant Identifiers: chr17:g.4837181_4837186del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933886_4933891del , CM000679.2:g.4933886_4933891del	GRCh38
NC_000017.10:g.4837181_4837186del , CM000679.1:g.4837181_4837186del	GRCh37
NG_008767.2:g.6592_6597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1282_1287del (GP1BA) MANE Select	ENSP00000329380.5:p.Ser428_Glu429del
ENST00000649830.1:c.-888+451_-888+456del (CHRNE)	ENSP00000496907.1:n.-888+451_-888+456del
ENST00000329125.5:c.1282_1287del (GP1BA)	ENSP00000329380.5:p.Ser428_Glu429del
ENST00000611961.1:c.1272+10_1272+15del (GP1BA)	ENSP00000484439.1:n.1272+10_1272+15del
NM_000173.6:c.1282_1287del (GP1BA)	NP_000164.5:p.Ser428_Glu429del
NM_000173.7:c.1282_1287del (GP1BA) MANE Select	NP_000164.5:p.Ser428_Glu429del