Canonical Allele Identifier: CA2808375274
Gene: CHRNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455453_7455454insACCAAACACACCCAACACA , CM000679.2:g.7455453_7455454insACCAAACACACCCAACACA GRCh38
NC_000017.10:g.7358772_7358773insACCAAACACACCCAACACA , CM000679.1:g.7358772_7358773insACCAAACACACCCAACACA GRCh37
NC_000017.9:g.7299496_7299497insACCAAACACACCCAACACA NCBI36
NG_008026.1:g.15367_15368insACCAAACACACCCAACACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1214_1215insACCAAACACACCCAACACA MANE Select ENSP00000304290.2:p.Asn405LysfsTer8
ENST00000306071.6:c.1214_1215insACCAAACACACCCAACACA ENSP00000304290.2:p.Asn405LysfsTer8
ENST00000536404.6:c.998_999insACCAAACACACCCAACACA ENSP00000439209.2:p.Asn333LysfsTer8
ENST00000570557.5:c.877_878insACCAAACACACCCAACACA
ENST00000573209.1:n.2158_2159insACCAAACACACCCAACACA
ENST00000576360.1:c.851_852insACCAAACACACCCAACACA ENSP00000459092.1:p.Asn284LysfsTer8
NM_000747.2:c.1214_1215insACCAAACACACCCAACACA NP_000738.2:p.Asn405LysfsTer8
NM_000747.3:c.1214_1215insACCAAACACACCCAACACA MANE Select NP_000738.2:p.Asn405LysfsTer8