Canonical Allele Identifier: CA2635579183

Gene: GP1BA CHRNE

Linked Data

• gnomAD v4: 17-4933884-CCTCAGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933886_4933892del , CM000679.2:g.4933886_4933892del	GRCh38
NC_000017.10:g.4837181_4837187del , CM000679.1:g.4837181_4837187del	GRCh37
NG_008767.2:g.6592_6598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1282_1288del (GP1BA) MANE Select	ENSP00000329380.5:p.Ser428ProfsTer?
ENST00000649830.1:c.-888+451_-888+457del (CHRNE)	ENSP00000496907.1:n.-888+451_-888+457del
ENST00000329125.5:c.1282_1288del (GP1BA)	ENSP00000329380.5:p.Ser428ProfsTer?
ENST00000611961.1:c.1272+10_1272+16del (GP1BA)	ENSP00000484439.1:n.1272+10_1272+16del
NM_000173.6:c.1282_1288del (GP1BA)	NP_000164.5:p.Ser428ProfsTer?
NM_000173.7:c.1282_1288del (GP1BA) MANE Select	NP_000164.5:p.Ser428ProfsTer?