Canonical Allele Identifier: CA980972052
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

gnomAD v3: 17-4933888-AGAG-A
gnomAD v4: 17-4933888-AGAG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933889_4933891del , CM000679.2:g.4933889_4933891del GRCh38
NC_000017.10:g.4837184_4837186del , CM000679.1:g.4837184_4837186del GRCh37
NG_008767.2:g.6595_6597del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1285_1287del (GP1BA) MANE Select ENSP00000329380.5:p.Glu429del
ENST00000649830.1:c.-888+451_-888+453del (CHRNE) ENSP00000496907.1:n.-888+451_-888+453del
ENST00000329125.5:c.1285_1287del (GP1BA) ENSP00000329380.5:p.Glu429del
ENST00000611961.1:c.1272+13_1272+15del (GP1BA) ENSP00000484439.1:n.1272+13_1272+15del
NM_000173.6:c.1285_1287del (GP1BA) NP_000164.5:p.Glu429del
NM_000173.7:c.1285_1287del (GP1BA) MANE Select NP_000164.5:p.Glu429del
Search 100 bp 5'
Search 100 bp 3'