Canonical Allele Identifier: CA2808375230

Gene: CHRNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454339del , CM000679.2:g.7454339del	GRCh38
NC_000017.10:g.7357658del , CM000679.1:g.7357658del	GRCh37
NC_000017.9:g.7298382del	NCBI36
NG_008026.1:g.14253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.863del MANE Select	ENSP00000304290.2:p.Thr288MetfsTer?
ENST00000306071.6:c.863del	ENSP00000304290.2:p.Thr288MetfsTer?
ENST00000536404.6:c.647del	ENSP00000439209.2:p.Thr216MetfsTer?
ENST00000570557.5:c.526del
ENST00000573209.1:n.1807del
ENST00000576360.1:c.605-105del	ENSP00000459092.1:n.605-105del
NM_000747.2:c.863del	NP_000738.2:p.Thr288MetfsTer?
NM_000747.3:c.863del MANE Select	NP_000738.2:p.Thr288MetfsTer?