Canonical Allele Identifier: CA2635846358

Gene: CHRNB1

Linked Data

• gnomAD v4: 17-7454658-TATCATTTCACAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454662_7454673del , CM000679.2:g.7454662_7454673del	GRCh38
NC_000017.10:g.7357981_7357992del , CM000679.1:g.7357981_7357992del	GRCh37
NC_000017.9:g.7298705_7298716del	NCBI36
NG_008026.1:g.14576_14587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1044+142_1044+153del MANE Select	ENSP00000304290.2:n.1044+142_1044+153del
ENST00000306071.6:c.1044+142_1044+153del	ENSP00000304290.2:n.1044+142_1044+153del
ENST00000536404.6:c.828+142_828+153del	ENSP00000439209.2:n.828+142_828+153del
ENST00000570557.5:c.707+142_707+153del
ENST00000573209.1:n.1988+142_1988+153del
ENST00000576360.1:c.681+142_681+153del	ENSP00000459092.1:n.681+142_681+153del
NM_000747.2:c.1044+142_1044+153del	NP_000738.2:n.1044+142_1044+153del
NM_000747.3:c.1044+142_1044+153del MANE Select	NP_000738.2:n.1044+142_1044+153del