Canonical Allele Identifier: CA2244625802

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933880_4933917delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA , CM000679.2:g.4933880_4933917delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA GRCh38
NC_000017.10:g.4837175_4837212delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA , CM000679.1:g.4837175_4837212delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA GRCh37
NG_008767.2:g.6586_6623delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1276_1313delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA (GP1BA) MANE Select ENSP00000329380.5:p.Pro426=
ENST00000649830.1:c.-888+425_-888+462delinsTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGG (CHRNE) ENSP00000496907.1:n.-888+425_-888+462delinsTCTGGGGTGGTCGGGCTG...
ENST00000329125.5:c.1276_1313delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA (GP1BA) ENSP00000329380.5:p.Pro426=
ENST00000611961.1:c.1272+4_1273-38delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA (GP1BA) ENSP00000484439.1:n.1272+4_1273-38delinsCCCACCTCAGAGCCCGCCCCC...
NM_000173.6:c.1276_1313delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA (GP1BA) NP_000164.5:p.Pro426=
NM_000173.7:c.1276_1313delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA (GP1BA) MANE Select NP_000164.5:p.Pro426=