Linked Data
gnomAD v3:
15-40719057-C-CTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
15-40719057-C-CTTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40719071_40719072insTTTTTTTTTTTTTTTTTTTTTTTTT , CM000677.2:g.40719071_40719072insTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000015.9:g.41011269_41011270insTTTTTTTTTTTTTTTTTTTTTTTTT , CM000677.1:g.41011269_41011270insTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000015.8:g.38798561_38798562insTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_012120.1:g.28911_28912insTTTTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267868.8:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000267868.3:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000532743.6:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000433924.2:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000645673.2:c.533+172_533+173insTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000493712.2:n.533+172_533+173insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000267868.7:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000267868.3:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000382643.7:c.533+172_533+173insTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000372088.3:n.533+172_533+173insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000423169.6:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000406602.2:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000525066.5:c.436-9640_436-9639insTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000431864.1:n.436-9640_436-9639insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000531277.2:c.*109+172_*109+173insTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000436512.2:n.*109+172_*109+173insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000532743.5:c.533+172_533+173insTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000433924.1:n.533+172_533+173insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000557850.5:c.239+172_239+173insTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000454176.1:n.239+172_239+173insTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001164269.1:c.533+172_533+173insTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001157741.1:n.533+172_533+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001164270.1:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001157742.1:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_002875.4:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | NP_002866.2:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_133487.3:c.533+172_533+173insTTTTTTTTTTTTTTTTTTTTTTTTT | NP_597994.3:n.533+172_533+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_006720626.2:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | XP_006720689.1:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_011521857.1:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011520159.1:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_011521858.1:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011520160.1:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_011521859.1:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011520161.1:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_011521860.1:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011520162.1:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_011521861.1:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011520163.1:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_011521862.1:c.158+172_158+173insTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011520164.1:n.158+172_158+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_006720626.3:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | XP_006720689.1:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_011521857.2:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011520159.1:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_011521858.2:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011520160.1:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_011521859.2:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011520161.1:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_011521860.2:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011520162.1:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_011521861.2:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011520163.1:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_011521862.3:c.158+172_158+173insTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011520164.1:n.158+172_158+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001164269.2:c.533+172_533+173insTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001157741.1:n.533+172_533+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001164270.2:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001157742.1:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_002875.5:c.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_002866.2:n.530+172_530+173insTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_133487.4:c.533+172_533+173insTTTTTTTTTTTTTTTTTTTTTTTTT | NP_597994.3:n.533+172_533+173insTTTTTTTTTTTTTTTTTTTTTTTTT |