Linked Data
dbSNP Id:
rs1193859376
gnomAD v3:
15-78594610-G-GGAGGCTGCAGTGAGCC
gnomAD v4:
15-78594610-G-GGAGGCTGCAGTGAGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78594614_78594629dup , CM000677.2:g.78594614_78594629dup | GRCh38 |
| NC_000015.9:g.78886956_78886971dup , CM000677.1:g.78886956_78886971dup | GRCh37 |
| NC_000015.8:g.76674011_76674026dup | NCBI36 |
| NG_016143.1:g.31670_31685dup | |
| NG_023328.1:g.34095_34110dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299565.9:c.*1361_*1376dup (CHRNA5) MANE Select | ENSP00000299565.5:n.*1361_*1376dup | |
| ENST00000348639.7:c.1390-1435_1390-1420dup (CHRNA3) | ENSP00000267951.4:n.1390-1435_1390-1420du... | |
| ENST00000559002.5:n.194-1435_194-1420dup (CHRNA3) | ||
| ENST00000559658.5:c.*65-615_*65-600dup (CHRNA3) | ENSP00000452896.1:n.*65-615_*65-600dup | |
| NM_000745.3:c.*1361_*1376dup (CHRNA5) | NP_000736.2:n.*1361_*1376dup | |
| NM_001166694.1:c.1390-1435_1390-1420dup (CHRNA3) | NP_001160166.1:n.1390-1435_1390-1420dup | |
| NM_001307945.1:c.*1498_*1513dup (CHRNA5) | NP_001294874.1:n.*1498_*1513dup | |
| NR_046313.1:n.2084-615_2084-600dup (CHRNA3) | ||
| NM_001166694.2:c.1390-1435_1390-1420dup (CHRNA3) | NP_001160166.1:n.1390-1435_1390-1420dup | |
| NM_001307945.2:c.*1498_*1513dup (CHRNA5) | NP_001294874.1:n.*1498_*1513dup | |
| NR_046313.2:n.1785-615_1785-600dup (CHRNA3) | ||
| NM_000745.4:c.*1361_*1376dup (CHRNA5) MANE Select | NP_000736.2:n.*1361_*1376dup | |
| NM_001395171.1:c.*1498_*1513dup (CHRNA5) | NP_001382100.1:n.*1498_*1513dup | |
| NM_001395172.1:c.*1361_*1376dup (CHRNA5) | NP_001382101.1:n.*1361_*1376dup | |
| NM_001395173.1:c.*1498_*1513dup (CHRNA5) | NP_001382102.1:n.*1498_*1513dup | |
| NM_001395174.1:c.*1498_*1513dup (CHRNA5) | NP_001382103.1:n.*1498_*1513dup | |
| NM_001395175.1:c.*1498_*1513dup (CHRNA5) | NP_001382104.1:n.*1498_*1513dup |