Linked Data
gnomAD v2:
9-21988756-AGTTG-A
gnomAD v3:
9-21988757-AGTTG-A
gnomAD v4:
9-21988757-AGTTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21988758_21988761del , CM000671.2:g.21988758_21988761del | GRCh38 |
| NC_000009.11:g.21988757_21988760del , CM000671.1:g.21988757_21988760del | GRCh37 |
| NC_000009.10:g.21978757_21978760del | NCBI36 |
| NG_007485.1:g.10731_10734del , LRG_11:g.10731_10734del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404796.3:c.348-40675_348-40672del | ENSP00000385916.2:n.348-40675_348-40672del | |
| ENST00000579755.2:c.193+5378_193+5381del MANE Plus Clinical | ENSP00000462950.1:n.193+5378_193+5381del | |
| ENST00000361570.4:c.193+5378_193+5381del | ENSP00000355153.4:n.193+5378_193+5381del | |
| ENST00000404796.2:c.348-40675_348-40672del | ENSP00000385916.2:n.348-40675_348-40672del | |
| ENST00000494262.5:c.-4+5121_-4+5124del | ENSP00000464952.1:n.-4+5121_-4+5124del | |
| ENST00000498628.6:c.-4+6060_-4+6063del | ENSP00000467857.1:n.-4+6060_-4+6063del | |
| ENST00000530628.2:c.193+5378_193+5381del | ENSP00000432664.2:n.193+5378_193+5381del | |
| ENST00000579755.1:c.193+5378_193+5381del | ENSP00000462950.1:n.193+5378_193+5381del | |
| NM_058195.3:c.193+5378_193+5381del , LRG_11t2:c.193+5378_193+5381del | NP_478102.2:n.193+5378_193+5381del | |
| XM_011517678.1:c.*1169_*1172del | XP_011515980.1:n.*1169_*1172del | |
| XM_011517679.1:c.-4+6060_-4+6063del | XP_011515981.1:n.-4+6060_-4+6063del | |
| XR_929161.1:n.340+5378_340+5381del | ||
| XR_929162.1:n.340+5378_340+5381del | ||
| XR_929163.1:n.289+5378_289+5381del | ||
| NM_001363763.1:c.-4+6060_-4+6063del | NP_001350692.1:n.-4+6060_-4+6063del | |
| NM_001363763.2:c.-4+6060_-4+6063del | NP_001350692.1:n.-4+6060_-4+6063del | |
| NM_058195.4:c.193+5378_193+5381del MANE Plus Clinical | NP_478102.2:n.193+5378_193+5381del |