Canonical Allele Identifier: CA2245821843
Gene: CHRNB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454354_7454358delinsTGCTG , CM000679.2:g.7454354_7454358delinsTGCTG GRCh38
NC_000017.10:g.7357673_7357677delinsTGCTG , CM000679.1:g.7357673_7357677delinsTGCTG GRCh37
NC_000017.9:g.7298397_7298401delinsTGCTG NCBI36
NG_008026.1:g.14268_14272delinsTGCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.878_882delinsTGCTG MANE Select ENSP00000304290.2:p.Leu293=
ENST00000306071.6:c.878_882delinsTGCTG ENSP00000304290.2:p.Leu293=
ENST00000536404.6:c.662_666delinsTGCTG ENSP00000439209.2:p.Leu221=
ENST00000570557.5:c.541_545delinsTGCTG
ENST00000573209.1:n.1822_1826delinsTGCTG
ENST00000576360.1:c.605-90_605-86delinsTGCTG ENSP00000459092.1:n.605-90_605-86delinsTGCTG
NM_000747.2:c.878_882delinsTGCTG NP_000738.2:p.Leu293=
NM_000747.3:c.878_882delinsTGCTG MANE Select NP_000738.2:p.Leu293=
Search 100 bp 5'
Search 100 bp 3'