Canonical Allele Identifier: CA2245822340
Gene: CHRNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455458_7455460delinsTAG , CM000679.2:g.7455458_7455460delinsTAG GRCh38
NC_000017.10:g.7358777_7358779delinsTAG , CM000679.1:g.7358777_7358779delinsTAG GRCh37
NC_000017.9:g.7299501_7299503delinsTAG NCBI36
NG_008026.1:g.15372_15374delinsTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1217+2_1217+4delinsTAG MANE Select ENSP00000304290.2:n.1217+2_1217+4delinsTAG
ENST00000306071.6:c.1217+2_1217+4delinsTAG ENSP00000304290.2:n.1217+2_1217+4delinsTAG
ENST00000536404.6:c.1001+2_1001+4delinsTAG ENSP00000439209.2:n.1001+2_1001+4delinsTAG
ENST00000570557.5:c.880+2_880+4delinsTAG
ENST00000573209.1:n.2163_2165delinsTAG
ENST00000576360.1:c.854+2_854+4delinsTAG ENSP00000459092.1:n.854+2_854+4delinsTAG
NM_000747.2:c.1217+2_1217+4delinsTAG NP_000738.2:n.1217+2_1217+4delinsTAG
NM_000747.3:c.1217+2_1217+4delinsTAG MANE Select NP_000738.2:n.1217+2_1217+4delinsTAG