Canonical Allele Identifier: CA2635846333

Gene: CHRNB1

Linked Data

• gnomAD v4: 17-7454628-ATGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454631_7454633del , CM000679.2:g.7454631_7454633del	GRCh38
NC_000017.10:g.7357950_7357952del , CM000679.1:g.7357950_7357952del	GRCh37
NC_000017.9:g.7298674_7298676del	NCBI36
NG_008026.1:g.14545_14547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1044+111_1044+113del MANE Select	ENSP00000304290.2:n.1044+111_1044+113del
ENST00000306071.6:c.1044+111_1044+113del	ENSP00000304290.2:n.1044+111_1044+113del
ENST00000536404.6:c.828+111_828+113del	ENSP00000439209.2:n.828+111_828+113del
ENST00000570557.5:c.707+111_707+113del
ENST00000573209.1:n.1988+111_1988+113del
ENST00000576360.1:c.681+111_681+113del	ENSP00000459092.1:n.681+111_681+113del
NM_000747.2:c.1044+111_1044+113del	NP_000738.2:n.1044+111_1044+113del
NM_000747.3:c.1044+111_1044+113del MANE Select	NP_000738.2:n.1044+111_1044+113del