Canonical Allele Identifier: CA2635579035

Gene: GP1BA CHRNE

Linked Data

• gnomAD v4: 17-4933837-A-AGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCCCCCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933870_4933871insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC , CM000679.2:g.4933870_4933871insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC	GRCh38
NC_000017.10:g.4837165_4837166insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC , CM000679.1:g.4837165_4837166insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC	GRCh37
NC_000017.9:g.4777945_4777946insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC	NCBI36
NG_008767.2:g.6576_6577insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1266_1267insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC (GP1BA) MANE Select	ENSP00000329380.5:p.Thr422_Thr423insProProGluProThrSerGluProA...
ENST00000649830.1:c.-888+504_-888+505insCGGGGGGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC (CHRNE)	ENSP00000496907.1:n.-888+504_-888+505insCGGGGGGGTCGGGCTGGGGGC...
ENST00000329125.5:c.1266_1267insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC (GP1BA)	ENSP00000329380.5:p.Thr422_Thr423insProProGluProThrSerGluProA...
ENST00000611961.1:c.1266_1267insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC (GP1BA)	ENSP00000484439.1:p.Thr422_Thr423insProProGluProThrSerGluProA...
NM_000173.6:c.1266_1267insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC (GP1BA)	NP_000164.5:p.Thr422_Thr423insProProGluProThrSerGluProAlaProS...
NM_000173.7:c.1266_1267insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC (GP1BA) MANE Select	NP_000164.5:p.Thr422_Thr423insProProGluProThrSerGluProAlaProS...