Canonical Allele Identifier: CA624856146
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1314299664
gnomAD v2: 17-4837146-AG-A
gnomAD v4: 17-4933851-AG-A
MyVariant Identifiers: chr17:g.4837147del (hg19) chr17:g.4933852del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933852del , CM000679.2:g.4933852del GRCh38
NC_000017.10:g.4837147del , CM000679.1:g.4837147del GRCh37
NC_000017.9:g.4777927del NCBI36
NG_008767.2:g.6558del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1248del (GP1BA) MANE Select ENSP00000329380.5:p.Glu416AspfsTer?
ENST00000649830.1:c.-888+490del (CHRNE) ENSP00000496907.1:n.-888+490del
ENST00000329125.5:c.1248del (GP1BA) ENSP00000329380.5:p.Glu416AspfsTer?
ENST00000611961.1:c.1248del (GP1BA) ENSP00000484439.1:p.Glu416AspfsTer30
NM_000173.6:c.1248del (GP1BA) NP_000164.5:p.Glu416AspfsTer?
NM_000173.7:c.1248del (GP1BA) MANE Select NP_000164.5:p.Glu416AspfsTer?
Search 100 bp 5'
Search 100 bp 3'