Canonical Allele Identifier: CA2244625819

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933887_4933888delinsCA , CM000679.2:g.4933887_4933888delinsCA GRCh38
NC_000017.10:g.4837182_4837183delinsCA , CM000679.1:g.4837182_4837183delinsCA GRCh37
NG_008767.2:g.6593_6594delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1283_1284delinsCA (GP1BA) MANE Select ENSP00000329380.5:p.Ser428=
ENST00000649830.1:c.-888+454_-888+455delinsTG (CHRNE) ENSP00000496907.1:n.-888+454_-888+455delinsTG
ENST00000329125.5:c.1283_1284delinsCA (GP1BA) ENSP00000329380.5:p.Ser428=
ENST00000611961.1:c.1272+11_1272+12delinsCA (GP1BA) ENSP00000484439.1:n.1272+11_1272+12delinsCA
NM_000173.6:c.1283_1284delinsCA (GP1BA) NP_000164.5:p.Ser428=
NM_000173.7:c.1283_1284delinsCA (GP1BA) MANE Select NP_000164.5:p.Ser428=