Canonical Allele Identifier: CA2629789165

Gene: CHRNA3

Linked Data

• gnomAD v4: 15-78602209-CAGTGTACTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78602213_78602222del , CM000677.2:g.78602213_78602222del	GRCh38
NC_000015.9:g.78894555_78894564del , CM000677.1:g.78894555_78894564del	GRCh37
NC_000015.8:g.76681610_76681619del	NCBI36
NG_016143.1:g.24077_24086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326828.6:c.423_432del MANE Select	ENSP00000315602.5:p.Lys142GlyfsTer3
ENST00000326828.5:c.423_432del	ENSP00000315602.5:p.Lys142GlyfsTer3
ENST00000348639.7:c.423_432del	ENSP00000267951.4:p.Lys142GlyfsTer3
ENST00000558903.1:n.130_139del
ENST00000559658.5:c.423_432del	ENSP00000452896.1:p.Lys142GlyfsTer3
NM_000743.4:c.423_432del	NP_000734.2:p.Lys142GlyfsTer3
NM_001166694.1:c.423_432del	NP_001160166.1:p.Lys142GlyfsTer3
NR_046313.1:n.924_933del
XM_006720382.1:c.222_231del	XP_006720445.1:p.Lys75GlyfsTer3
XM_011521173.1:c.342_351del	XP_011519475.1:p.Lys115GlyfsTer3
XM_006720382.3:c.222_231del	XP_006720445.1:p.Lys75GlyfsTer3
NM_000743.5:c.423_432del MANE Select	NP_000734.2:p.Lys142GlyfsTer3
NM_001166694.2:c.423_432del	NP_001160166.1:p.Lys142GlyfsTer3
NR_046313.2:n.625_634del