Linked Data
gnomAD v3:
16-56887798-A-ATATATATATATTTTTTTTTT
gnomAD v4:
16-56887798-A-ATATATATATATTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56887799_56887800insATATATATATTTTTTTTTTT , CM000678.2:g.56887799_56887800insATATATATATTTTTTTTTTT | GRCh38 |
| NC_000016.9:g.56921711_56921712insATATATATATTTTTTTTTTT , CM000678.1:g.56921711_56921712insATATATATATTTTTTTTTTT | GRCh37 |
| NC_000016.8:g.55479212_55479213insATATATATATTTTTTTTTTT | NCBI36 |
| NG_009386.1:g.27593_27594insATATATATATTTTTTTTTTT | |
| NG_009386.2:g.27593_27594insATATATATATTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.2179-126_2179-125insATATATATATTTTTTTTTTT MANE Select | ENSP00000456149.2:n.2179-126_2179-125insATATATATATTTTTTTTTTT | |
| ENST00000262502.5:c.2176-126_2176-125insATATATATATTTTTTTTTTT | ENSP00000262502.5:n.2176-126_2176-125insATATATATATTTTTTTTTTT | |
| ENST00000438926.6:c.2179-126_2179-125insATATATATATTTTTTTTTTT | ENSP00000402152.2:n.2179-126_2179-125insATATATATATTTTTTTTTTT | |
| ENST00000563236.5:c.2179-126_2179-125insATATATATATTTTTTTTTTT | ENSP00000456149.1:n.2179-126_2179-125insATATATATATTTTTTTTTTT | |
| ENST00000566786.5:c.2176-126_2176-125insATATATATATTTTTTTTTTT | ENSP00000457552.1:n.2176-126_2176-125insATATATATATTTTTTTTTTT | |
| NM_000339.2:c.2179-126_2179-125insATATATATATTTTTTTTTTT | NP_000330.2:n.2179-126_2179-125insATATATATATTTTTTTTTTT | |
| NM_001126107.1:c.2176-126_2176-125insATATATATATTTTTTTTTTT | NP_001119579.1:n.2176-126_2176-125insATATATATATTTTTTTTTTT | |
| NM_001126108.1:c.2179-126_2179-125insATATATATATTTTTTTTTTT | NP_001119580.1:n.2179-126_2179-125insATATATATATTTTTTTTTTT | |
| XM_005256119.1:c.2176-126_2176-125insATATATATATTTTTTTTTTT | XP_005256176.1:n.2176-126_2176-125insATATATATATTTTTTTTTTT | |
| XM_005256119.2:c.2176-126_2176-125insATATATATATTTTTTTTTTT | XP_005256176.1:n.2176-126_2176-125insATATATATATTTTTTTTTTT | |
| NM_000339.3:c.2179-126_2179-125insATATATATATTTTTTTTTTT | NP_000330.3:n.2179-126_2179-125insATATATATATTTTTTTTTTT | |
| NM_001126107.2:c.2176-126_2176-125insATATATATATTTTTTTTTTT | NP_001119579.2:n.2176-126_2176-125insATATATATATTTTTTTTTTT | |
| NM_001126108.2:c.2179-126_2179-125insATATATATATTTTTTTTTTT MANE Select | NP_001119580.2:n.2179-126_2179-125insATATATATATTTTTTTTTTT |