Canonical Allele Identifier: CA2741515692
Gene: CHRNB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454468del , CM000679.2:g.7454468del GRCh38
NC_000017.10:g.7357787del , CM000679.1:g.7357787del GRCh37
NC_000017.9:g.7298511del NCBI36
NG_008026.1:g.14382del

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.992del MANE Select ENSP00000304290.2:p.Asn331ThrfsTer30
ENST00000306071.6:c.992del ENSP00000304290.2:p.Asn331ThrfsTer30
ENST00000536404.6:c.776del ENSP00000439209.2:p.Asn259ThrfsTer30
ENST00000570557.5:c.655del
ENST00000573209.1:n.1936del
ENST00000576360.1:c.629del ENSP00000459092.1:p.Asn210ThrfsTer30
NM_000747.2:c.992del NP_000738.2:p.Asn331ThrfsTer30
NM_000747.3:c.992del MANE Select NP_000738.2:p.Asn331ThrfsTer30
Search 100 bp 5'
Search 100 bp 3'