Linked Data
dbSNP Id:
rs2052068090
gnomAD v3:
16-3736616-ACAAAAGCCACCACCTTCCTT-A
gnomAD v4:
16-3736616-ACAAAAGCCACCACCTTCCTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736619_3736638del , CM000678.2:g.3736619_3736638del | GRCh38 |
| NC_000016.9:g.3786620_3786639del , CM000678.1:g.3786620_3786639del | GRCh37 |
| NC_000016.8:g.3726621_3726640del | NCBI36 |
| NG_009873.1:g.148485_148504del | |
| NG_009873.2:g.149078_149097del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4560+14_4560+33del MANE Select | ENSP00000262367.5:n.4560+14_4560+33del | |
| ENST00000262367.9:c.4560+14_4560+33del | ENSP00000262367.5:n.4560+14_4560+33del | |
| ENST00000382070.7:c.4446+14_4446+33del | ENSP00000371502.3:n.4446+14_4446+33del | |
| ENST00000570939.2:c.3195+14_3195+33del | ENSP00000461002.2:n.3195+14_3195+33del | |
| ENST00000571763.5:n.350+14_350+33del | ||
| ENST00000574740.1:n.395_414del | ||
| ENST00000576720.1:n.3383+14_3383+33del | ||
| NM_001079846.1:c.4446+14_4446+33del | NP_001073315.1:n.4446+14_4446+33del | |
| NM_004380.2:c.4560+14_4560+33del | NP_004371.2:n.4560+14_4560+33del | |
| XM_005255124.3:c.4515+14_4515+33del | XP_005255181.1:n.4515+14_4515+33del | |
| XM_005255125.3:c.4143+14_4143+33del | XP_005255182.1:n.4143+14_4143+33del | |
| XM_006720848.2:c.4299+14_4299+33del | XP_006720911.1:n.4299+14_4299+33del | |
| XM_011522380.1:c.4506+14_4506+33del | XP_011520682.1:n.4506+14_4506+33del | |
| XM_011522381.1:c.3807+14_3807+33del | XP_011520683.1:n.3807+14_3807+33del | |
| XM_005255124.4:c.4515+14_4515+33del | XP_005255181.1:n.4515+14_4515+33del | |
| XM_005255125.4:c.4143+14_4143+33del | XP_005255182.1:n.4143+14_4143+33del | |
| XM_006720848.3:c.4299+14_4299+33del | XP_006720911.1:n.4299+14_4299+33del | |
| XM_011522381.2:c.3807+14_3807+33del | XP_011520683.1:n.3807+14_3807+33del | |
| XM_017022944.1:c.4554+14_4554+33del | XP_016878433.1:n.4554+14_4554+33del | |
| NM_004380.3:c.4560+14_4560+33del MANE Select | NP_004371.2:n.4560+14_4560+33del |