Canonical Allele Identifier: CA2580613962
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 2572131
ClinVar RCV Id: RCV003313869
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934012del , CM000679.2:g.4934012del GRCh38
NC_000017.10:g.4837307del , CM000679.1:g.4837307del GRCh37
NC_000017.9:g.4778048del NCBI36
NG_008767.2:g.6718del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1408del (GP1BA) MANE Select ENSP00000329380.5:p.Ser470AlafsTer2
ENST00000649830.1:c.-888+331del (CHRNE) ENSP00000496907.1:n.-888+331del
ENST00000329125.5:c.1408del (GP1BA) ENSP00000329380.5:p.Ser470AlafsTer2
ENST00000611961.1:c.1330del (GP1BA) ENSP00000484439.1:p.Ser444AlafsTer2
NM_000173.6:c.1408del (GP1BA) NP_000164.5:p.Ser470AlafsTer2
NM_000173.7:c.1408del (GP1BA) MANE Select NP_000164.5:p.Ser470AlafsTer2
Search 100 bp 5'
Search 100 bp 3'