Linked Data
dbSNP Id:
rs992150293
gnomAD v3:
15-78593681-TTATACTGCTATATTTAAAAAGCTG-T
gnomAD v4:
15-78593681-TTATACTGCTATATTTAAAAAGCTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78593682_78593705del , CM000677.2:g.78593682_78593705del | GRCh38 |
| NC_000015.9:g.78886024_78886047del , CM000677.1:g.78886024_78886047del | GRCh37 |
| NC_000015.8:g.76673079_76673102del | NCBI36 |
| NG_016143.1:g.32591_32614del | |
| NG_023328.1:g.33163_33186del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299565.9:c.*429_*452del (CHRNA5) MANE Select | ENSP00000299565.5:n.*429_*452del | |
| ENST00000348639.7:c.1390-514_1390-491del (CHRNA3) | ENSP00000267951.4:n.1390-514_1390-491del | |
| ENST00000559002.5:n.194-514_194-491del (CHRNA3) | ||
| ENST00000559658.5:c.*162+209_*162+232del (CHRNA3) | ENSP00000452896.1:n.*162+209_*162+232del | |
| NM_000745.3:c.*429_*452del (CHRNA5) | NP_000736.2:n.*429_*452del | |
| NM_001166694.1:c.1390-514_1390-491del (CHRNA3) | NP_001160166.1:n.1390-514_1390-491del | |
| NM_001307945.1:c.*566_*589del (CHRNA5) | NP_001294874.1:n.*566_*589del | |
| NR_046313.1:n.2181+209_2181+232del (CHRNA3) | ||
| NM_001166694.2:c.1390-514_1390-491del (CHRNA3) | NP_001160166.1:n.1390-514_1390-491del | |
| NM_001307945.2:c.*566_*589del (CHRNA5) | NP_001294874.1:n.*566_*589del | |
| NR_046313.2:n.1882+209_1882+232del (CHRNA3) | ||
| NM_000745.4:c.*429_*452del (CHRNA5) MANE Select | NP_000736.2:n.*429_*452del | |
| NM_001395171.1:c.*566_*589del (CHRNA5) | NP_001382100.1:n.*566_*589del | |
| NM_001395172.1:c.*429_*452del (CHRNA5) | NP_001382101.1:n.*429_*452del | |
| NM_001395173.1:c.*566_*589del (CHRNA5) | NP_001382102.1:n.*566_*589del | |
| NM_001395174.1:c.*566_*589del (CHRNA5) | NP_001382103.1:n.*566_*589del | |
| NM_001395175.1:c.*566_*589del (CHRNA5) | NP_001382104.1:n.*566_*589del |