Canonical Allele Identifier: CA619234709

Gene: CHRNA5 CHRNA3

Linked Data

• dbSNP Id: rs1243412616
• gnomAD v2: 15-78886851-T-TCTACTAAGAATA
• gnomAD v3: 15-78594509-T-TCTACTAAGAATA
• gnomAD v4: 15-78594509-T-TCTACTAAGAATA
• MyVariant Identifiers: chr15:g.78886851_78886852insCTACTAAGAATA (hg19) ; chr15:g.78594509_78594510insCTACTAAGAATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78594511_78594522dup , CM000677.2:g.78594511_78594522dup	GRCh38
NC_000015.9:g.78886853_78886864dup , CM000677.1:g.78886853_78886864dup	GRCh37
NC_000015.8:g.76673908_76673919dup	NCBI36
NG_016143.1:g.31775_31786dup
NG_023328.1:g.33992_34003dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000299565.9:c.*1258_*1269dup (CHRNA5) MANE Select	ENSP00000299565.5:n.*1258_*1269dup
ENST00000348639.7:c.1390-1330_1390-1319dup (CHRNA3)	ENSP00000267951.4:n.1390-1330_1390-1319dup
ENST00000559002.5:n.194-1330_194-1319dup (CHRNA3)
ENST00000559658.5:c.*65-510_*65-499dup (CHRNA3)	ENSP00000452896.1:n.*65-510_*65-499dup
NM_000745.3:c.*1258_*1269dup (CHRNA5)	NP_000736.2:n.*1258_*1269dup
NM_001166694.1:c.1390-1330_1390-1319dup (CHRNA3)	NP_001160166.1:n.1390-1330_1390-1319dup
NM_001307945.1:c.*1395_*1406dup (CHRNA5)	NP_001294874.1:n.*1395_*1406dup
NR_046313.1:n.2084-510_2084-499dup (CHRNA3)
NM_001166694.2:c.1390-1330_1390-1319dup (CHRNA3)	NP_001160166.1:n.1390-1330_1390-1319dup
NM_001307945.2:c.*1395_*1406dup (CHRNA5)	NP_001294874.1:n.*1395_*1406dup
NR_046313.2:n.1785-510_1785-499dup (CHRNA3)
NM_000745.4:c.*1258_*1269dup (CHRNA5) MANE Select	NP_000736.2:n.*1258_*1269dup
NM_001395171.1:c.*1395_*1406dup (CHRNA5)	NP_001382100.1:n.*1395_*1406dup
NM_001395172.1:c.*1258_*1269dup (CHRNA5)	NP_001382101.1:n.*1258_*1269dup
NM_001395173.1:c.*1395_*1406dup (CHRNA5)	NP_001382102.1:n.*1395_*1406dup
NM_001395174.1:c.*1395_*1406dup (CHRNA5)	NP_001382103.1:n.*1395_*1406dup
NM_001395175.1:c.*1395_*1406dup (CHRNA5)	NP_001382104.1:n.*1395_*1406dup