Canonical Allele Identifier: CA619234808

Gene: CHRNA5 CHRNA3

Linked Data

• dbSNP Id: rs1313229820
• gnomAD v2: 15-78887282-TCAC-T
• gnomAD v3: 15-78594940-TCAC-T
• gnomAD v4: 15-78594940-TCAC-T
• MyVariant Identifiers: chr15:g.78887283_78887285del (hg19) ; chr15:g.78594941_78594943del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78594944_78594946del , CM000677.2:g.78594944_78594946del	GRCh38
NC_000015.9:g.78887286_78887288del , CM000677.1:g.78887286_78887288del	GRCh37
NC_000015.8:g.76674341_76674343del	NCBI36
NG_016143.1:g.31353_31355del
NG_023328.1:g.34425_34427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.*1691_*1693del (CHRNA5) MANE Select	ENSP00000299565.5:n.*1691_*1693del
ENST00000348639.7:c.1390-1752_1390-1750del (CHRNA3)	ENSP00000267951.4:n.1390-1752_1390-1750del
ENST00000559002.5:n.193+1597_193+1599del (CHRNA3)
ENST00000559658.5:c.*65-932_*65-930del (CHRNA3)	ENSP00000452896.1:n.*65-932_*65-930del
NM_000745.3:c.*1691_*1693del (CHRNA5)	NP_000736.2:n.*1691_*1693del
NM_001166694.1:c.1390-1752_1390-1750del (CHRNA3)	NP_001160166.1:n.1390-1752_1390-1750del
NM_001307945.1:c.*1828_*1830del (CHRNA5)	NP_001294874.1:n.*1828_*1830del
NR_046313.1:n.2084-932_2084-930del (CHRNA3)
NM_001166694.2:c.1390-1752_1390-1750del (CHRNA3)	NP_001160166.1:n.1390-1752_1390-1750del
NM_001307945.2:c.*1828_*1830del (CHRNA5)	NP_001294874.1:n.*1828_*1830del
NR_046313.2:n.1785-932_1785-930del (CHRNA3)
NM_000745.4:c.*1691_*1693del (CHRNA5) MANE Select	NP_000736.2:n.*1691_*1693del
NM_001395171.1:c.*1828_*1830del (CHRNA5)	NP_001382100.1:n.*1828_*1830del
NM_001395172.1:c.*1691_*1693del (CHRNA5)	NP_001382101.1:n.*1691_*1693del
NM_001395173.1:c.*1828_*1830del (CHRNA5)	NP_001382102.1:n.*1828_*1830del
NM_001395174.1:c.*1828_*1830del (CHRNA5)	NP_001382103.1:n.*1828_*1830del
NM_001395175.1:c.*1828_*1830del (CHRNA5)	NP_001382104.1:n.*1828_*1830del