Linked Data
dbSNP Id:
rs1268760914
gnomAD v2:
15-78886012-TTAATA-T
gnomAD v3:
15-78593670-TTAATA-T
gnomAD v4:
15-78593670-TTAATA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78593677_78593681del , CM000677.2:g.78593677_78593681del | GRCh38 |
| NC_000015.9:g.78886019_78886023del , CM000677.1:g.78886019_78886023del | GRCh37 |
| NC_000015.8:g.76673074_76673078del | NCBI36 |
| NG_016143.1:g.32621_32625del | |
| NG_023328.1:g.33158_33162del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299565.9:c.*424_*428del (CHRNA5) MANE Select | ENSP00000299565.5:n.*424_*428del | |
| ENST00000348639.7:c.1390-484_1390-480del (CHRNA3) | ENSP00000267951.4:n.1390-484_1390-480del | |
| ENST00000559002.5:n.194-484_194-480del (CHRNA3) | ||
| ENST00000559576.1:c.731_735del (CHRNA5) | ||
| ENST00000559658.5:c.*162+239_*162+243del (CHRNA3) | ENSP00000452896.1:n.*162+239_*162+243del | |
| NM_000745.3:c.*424_*428del (CHRNA5) | NP_000736.2:n.*424_*428del | |
| NM_001166694.1:c.1390-484_1390-480del (CHRNA3) | NP_001160166.1:n.1390-484_1390-480del | |
| NM_001307945.1:c.*561_*565del (CHRNA5) | NP_001294874.1:n.*561_*565del | |
| NR_046313.1:n.2181+239_2181+243del (CHRNA3) | ||
| NM_001166694.2:c.1390-484_1390-480del (CHRNA3) | NP_001160166.1:n.1390-484_1390-480del | |
| NM_001307945.2:c.*561_*565del (CHRNA5) | NP_001294874.1:n.*561_*565del | |
| NR_046313.2:n.1882+239_1882+243del (CHRNA3) | ||
| NM_000745.4:c.*424_*428del (CHRNA5) MANE Select | NP_000736.2:n.*424_*428del | |
| NM_001395171.1:c.*561_*565del (CHRNA5) | NP_001382100.1:n.*561_*565del | |
| NM_001395172.1:c.*424_*428del (CHRNA5) | NP_001382101.1:n.*424_*428del | |
| NM_001395173.1:c.*561_*565del (CHRNA5) | NP_001382102.1:n.*561_*565del | |
| NM_001395174.1:c.*561_*565del (CHRNA5) | NP_001382103.1:n.*561_*565del | |
| NM_001395175.1:c.*561_*565del (CHRNA5) | NP_001382104.1:n.*561_*565del |