Canonical Allele Identifier: CA2808375234
Gene: CHRNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454653_7454654insCAAACCAAACACACCCAAC , CM000679.2:g.7454653_7454654insCAAACCAAACACACCCAAC GRCh38
NC_000017.10:g.7357972_7357973insCAAACCAAACACACCCAAC , CM000679.1:g.7357972_7357973insCAAACCAAACACACCCAAC GRCh37
NC_000017.9:g.7298696_7298697insCAAACCAAACACACCCAAC NCBI36
NG_008026.1:g.14567_14568insCAAACCAAACACACCCAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1044+133_1044+134insCAAACCAAACACACCCAAC MANE Select ENSP00000304290.2:n.1044+133_1044+134insCAAACCAAACACACCCAAC
ENST00000306071.6:c.1044+133_1044+134insCAAACCAAACACACCCAAC ENSP00000304290.2:n.1044+133_1044+134insCAAACCAAACACACCCAAC
ENST00000536404.6:c.828+133_828+134insCAAACCAAACACACCCAAC ENSP00000439209.2:n.828+133_828+134insCAAACCAAACACACCCAAC
ENST00000570557.5:c.707+133_707+134insCAAACCAAACACACCCAAC
ENST00000573209.1:n.1988+133_1988+134insCAAACCAAACACACCCAAC
ENST00000576360.1:c.681+133_681+134insCAAACCAAACACACCCAAC ENSP00000459092.1:n.681+133_681+134insCAAACCAAACACACCCAAC
NM_000747.2:c.1044+133_1044+134insCAAACCAAACACACCCAAC NP_000738.2:n.1044+133_1044+134insCAAACCAAACACACCCAAC
NM_000747.3:c.1044+133_1044+134insCAAACCAAACACACCCAAC MANE Select NP_000738.2:n.1044+133_1044+134insCAAACCAAACACACCCAAC