Canonical Allele Identifier: CA2245821936

Gene: CHRNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454574_7454576delinsGAA , CM000679.2:g.7454574_7454576delinsGAA	GRCh38
NC_000017.10:g.7357893_7357895delinsGAA , CM000679.1:g.7357893_7357895delinsGAA	GRCh37
NC_000017.9:g.7298617_7298619delinsGAA	NCBI36
NG_008026.1:g.14488_14490delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1044+54_1044+56delinsGAA MANE Select	ENSP00000304290.2:n.1044+54_1044+56delinsGAA
ENST00000306071.6:c.1044+54_1044+56delinsGAA	ENSP00000304290.2:n.1044+54_1044+56delinsGAA
ENST00000536404.6:c.828+54_828+56delinsGAA	ENSP00000439209.2:n.828+54_828+56delinsGAA
ENST00000570557.5:c.707+54_707+56delinsGAA
ENST00000573209.1:n.1988+54_1988+56delinsGAA
ENST00000576360.1:c.681+54_681+56delinsGAA	ENSP00000459092.1:n.681+54_681+56delinsGAA
NM_000747.2:c.1044+54_1044+56delinsGAA	NP_000738.2:n.1044+54_1044+56delinsGAA
NM_000747.3:c.1044+54_1044+56delinsGAA MANE Select	NP_000738.2:n.1044+54_1044+56delinsGAA