Canonical Allele Identifier: CA915949478
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 627316
ClinVar RCV Id: RCV000852137
dbSNP Id: rs1597638753
gnomAD v4: 17-4933069-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933074dup , CM000679.2:g.4933074dup GRCh38
NC_000017.10:g.4836369dup , CM000679.1:g.4836369dup GRCh37
NC_000017.9:g.4777149dup NCBI36
NG_008767.2:g.5780dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.470dup (GP1BA) MANE Select ENSP00000329380.5:p.Gly158ArgfsTer16
ENST00000649830.1:c.-888+1272dup (CHRNE) ENSP00000496907.1:n.-888+1272dup
ENST00000329125.5:c.470dup (GP1BA) ENSP00000329380.5:p.Gly158ArgfsTer16
ENST00000611961.1:c.470dup (GP1BA) ENSP00000484439.1:p.Gly158ArgfsTer16
NM_000173.6:c.470dup (GP1BA) NP_000164.5:p.Gly158ArgfsTer16
NM_000173.7:c.470dup (GP1BA) MANE Select NP_000164.5:p.Gly158ArgfsTer16
Search 100 bp 5'
Search 100 bp 3'