Canonical Allele Identifier: CA2635846272

Gene: CHRNB1

Linked Data

• gnomAD v4: 17-7454525-GAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454526_7454528del , CM000679.2:g.7454526_7454528del	GRCh38
NC_000017.10:g.7357845_7357847del , CM000679.1:g.7357845_7357847del	GRCh37
NC_000017.9:g.7298569_7298571del	NCBI36
NG_008026.1:g.14440_14442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1044+6_1044+8del MANE Select	ENSP00000304290.2:n.1044+6_1044+8del
ENST00000306071.6:c.1044+6_1044+8del	ENSP00000304290.2:n.1044+6_1044+8del
ENST00000536404.6:c.828+6_828+8del	ENSP00000439209.2:n.828+6_828+8del
ENST00000570557.5:c.707+6_707+8del
ENST00000573209.1:n.1988+6_1988+8del
ENST00000576360.1:c.681+6_681+8del	ENSP00000459092.1:n.681+6_681+8del
NM_000747.2:c.1044+6_1044+8del	NP_000738.2:n.1044+6_1044+8del
NM_000747.3:c.1044+6_1044+8del MANE Select	NP_000738.2:n.1044+6_1044+8del