Linked Data
dbSNP Id:
rs749248612
ExAC:
11:18428848 AT / A
gnomAD v2:
11-18428848-AT-A
gnomAD v4:
11-18407301-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18407304del , CM000673.2:g.18407304del | GRCh38 |
| NC_000011.9:g.18428851del , CM000673.1:g.18428851del | GRCh37 |
| NC_000011.8:g.18385427del | NCBI36 |
| NG_008185.1:g.17870del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422447.8:c.*23del MANE Select | ENSP00000395337.3:n.*23del | |
| ENST00000227157.8:c.*172del | ENSP00000227157.4:n.*172del | |
| ENST00000375710.7:n.1889del | ||
| ENST00000379412.9:c.*23del | ENSP00000368722.5:n.*23del | |
| ENST00000396222.6:c.753del | ENSP00000379524.2:p.His252ThrfsTer3 | |
| ENST00000422447.7:c.*23del | ENSP00000395337.3:n.*23del | |
| ENST00000430553.6:c.*23del | ENSP00000406172.2:n.*23del | |
| ENST00000538451.1:n.909del | ||
| ENST00000540430.5:c.*23del | ENSP00000445175.1:n.*23del | |
| ENST00000545215.5:c.*766del | ENSP00000442637.1:n.*766del | |
| NM_001135239.1:c.*23del | NP_001128711.1:n.*23del | |
| NM_001165414.1:c.*23del | NP_001158886.1:n.*23del | |
| NM_001165415.1:c.753del | NP_001158887.1:p.His252ThrfsTer3 | |
| NM_001165416.1:c.*172del | NP_001158888.1:n.*172del | |
| NM_005566.3:c.*23del | NP_005557.1:n.*23del | |
| NR_028500.1:n.1176del | ||
| NM_005566.4:c.*23del MANE Select | NP_005557.1:n.*23del | |
| NM_001165415.2:c.753del | NP_001158887.1:p.His252ThrfsTer3 | |
| NM_001135239.2:c.*23del | NP_001128711.1:n.*23del | |
| NM_001165414.2:c.*23del | NP_001158886.1:n.*23del | |
| NM_001165416.2:c.*172del | NP_001158888.1:n.*172del | |
| NR_028500.2:n.1002del |