Canonical Allele Identifier: CA715959104

Gene: CHRNA5 CHRNA3

Linked Data

• dbSNP Id: rs1372248098
• gnomAD v3: 15-78594786-TTC-T
• gnomAD v4: 15-78594786-TTC-T
• MyVariant Identifiers: chr15:g.78887129_78887130del (hg19) ; chr15:g.78594787_78594788del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78594791_78594792del , CM000677.2:g.78594791_78594792del	GRCh38
NC_000015.9:g.78887133_78887134del , CM000677.1:g.78887133_78887134del	GRCh37
NC_000015.8:g.76674188_76674189del	NCBI36
NG_016143.1:g.31508_31509del
NG_023328.1:g.34272_34273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.*1538_*1539del (CHRNA5) MANE Select	ENSP00000299565.5:n.*1538_*1539del
ENST00000348639.7:c.1390-1597_1390-1596del (CHRNA3)	ENSP00000267951.4:n.1390-1597_1390-1596del
ENST00000559002.5:n.194-1597_194-1596del (CHRNA3)
ENST00000559658.5:c.*65-777_*65-776del (CHRNA3)	ENSP00000452896.1:n.*65-777_*65-776del
NM_000745.3:c.*1538_*1539del (CHRNA5)	NP_000736.2:n.*1538_*1539del
NM_001166694.1:c.1390-1597_1390-1596del (CHRNA3)	NP_001160166.1:n.1390-1597_1390-1596del
NM_001307945.1:c.*1675_*1676del (CHRNA5)	NP_001294874.1:n.*1675_*1676del
NR_046313.1:n.2084-777_2084-776del (CHRNA3)
NM_001166694.2:c.1390-1597_1390-1596del (CHRNA3)	NP_001160166.1:n.1390-1597_1390-1596del
NM_001307945.2:c.*1675_*1676del (CHRNA5)	NP_001294874.1:n.*1675_*1676del
NR_046313.2:n.1785-777_1785-776del (CHRNA3)
NM_000745.4:c.*1538_*1539del (CHRNA5) MANE Select	NP_000736.2:n.*1538_*1539del
NM_001395171.1:c.*1675_*1676del (CHRNA5)	NP_001382100.1:n.*1675_*1676del
NM_001395172.1:c.*1538_*1539del (CHRNA5)	NP_001382101.1:n.*1538_*1539del
NM_001395173.1:c.*1675_*1676del (CHRNA5)	NP_001382102.1:n.*1675_*1676del
NM_001395174.1:c.*1675_*1676del (CHRNA5)	NP_001382103.1:n.*1675_*1676del
NM_001395175.1:c.*1675_*1676del (CHRNA5)	NP_001382104.1:n.*1675_*1676del