Canonical Allele Identifier: CA8315002
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 2137887
ClinVar RCV Id: RCV003041268
dbSNP Id: rs774388410
ExAC: 17:4837352 G / GT
gnomAD v2: 17-4837352-G-GT
gnomAD v3: 17-4934057-G-GT
gnomAD v4: 17-4934057-G-GT
MyVariant Identifiers: chr17:g.4837352_4837353insT (hg19) chr17:g.4934057_4934058insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934058dup , CM000679.2:g.4934058dup GRCh38
NC_000017.10:g.4837353dup , CM000679.1:g.4837353dup GRCh37
NC_000017.9:g.4778094dup NCBI36
NG_008767.2:g.6764dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1454dup (GP1BA) MANE Select ENSP00000329380.5:p.Ser486IlefsTer12
ENST00000649830.1:c.-888+284dup (CHRNE) ENSP00000496907.1:n.-888+284dup
ENST00000329125.5:c.1454dup (GP1BA) ENSP00000329380.5:p.Ser486IlefsTer12
ENST00000611961.1:c.1376dup (GP1BA) ENSP00000484439.1:p.Ser460IlefsTer12
NM_000173.6:c.1454dup (GP1BA) NP_000164.5:p.Ser486IlefsTer12
NM_000173.7:c.1454dup (GP1BA) MANE Select NP_000164.5:p.Ser486IlefsTer12
Search 100 bp 5'
Search 100 bp 3'