Canonical Allele Identifier: CA2576152285
Gene: CHRNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454529_7454543del , CM000679.2:g.7454529_7454543del GRCh38
NC_000017.10:g.7357848_7357862del , CM000679.1:g.7357848_7357862del GRCh37
NC_000017.9:g.7298572_7298586del NCBI36
NG_008026.1:g.14443_14457del

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1044+9_1044+23del MANE Select ENSP00000304290.2:n.1044+9_1044+23del
ENST00000306071.6:c.1044+9_1044+23del ENSP00000304290.2:n.1044+9_1044+23del
ENST00000536404.6:c.828+9_828+23del ENSP00000439209.2:n.828+9_828+23del
ENST00000570557.5:c.707+9_707+23del
ENST00000573209.1:n.1988+9_1988+23del
ENST00000576360.1:c.681+9_681+23del ENSP00000459092.1:n.681+9_681+23del
NM_000747.2:c.1044+9_1044+23del NP_000738.2:n.1044+9_1044+23del
NM_000747.3:c.1044+9_1044+23del MANE Select NP_000738.2:n.1044+9_1044+23del