Linked Data
dbSNP Id:
rs978892578
gnomAD v2:
12-40757474-GA-G
gnomAD v3:
12-40363672-GA-G
gnomAD v4:
12-40363672-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363679del , CM000674.2:g.40363679del | GRCh38 |
| NC_000012.11:g.40757481del , CM000674.1:g.40757481del | GRCh37 |
| NC_000012.10:g.39043748del | NCBI36 |
| NG_011709.1:g.143669del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.7181+125del MANE Select | ENSP00000298910.7:n.7181+125del | |
| ENST00000636518.1:c.978+125del | ||
| ENST00000679360.1:c.*6090+125del | ENSP00000505368.1:n.*6090+125del | |
| ENST00000679532.1:c.2955+125del | ||
| ENST00000679683.1:c.971+125del | ||
| ENST00000680018.1:c.2626+125del | ENSP00000505347.1:n.2626+125del | |
| ENST00000680422.1:c.4268+125del | ||
| ENST00000680425.1:c.2348+125del | ENSP00000506459.1:n.2348+125del | |
| ENST00000680453.1:c.2638+125del | ||
| ENST00000680790.1:c.6926+125del | ENSP00000505335.1:n.6926+125del | |
| ENST00000681136.1:n.3165+125del | ||
| ENST00000681696.1:c.2864+125del | ENSP00000505871.1:n.2864+125del | |
| ENST00000681773.1:n.388+125del | ||
| ENST00000298910.11:c.7181+125del | ENSP00000298910.7:n.7181+125del | |
| ENST00000430804.5:c.4477+125del | ||
| ENST00000479187.5:n.3862+125del | ||
| NM_198578.3:c.7181+125del | NP_940980.3:n.7181+125del | |
| XM_005268629.2:c.7181+125del | XP_005268686.1:n.7181+125del | |
| XM_011537877.1:c.7181+125del | XP_011536179.1:n.7181+125del | |
| XM_011537879.1:c.5978+125del | XP_011536181.1:n.5978+125del | |
| XR_944868.1:n.485-8846del | ||
| XM_005268629.4:c.7181+125del | XP_005268686.1:n.7181+125del | |
| XM_011537877.3:c.7181+125del | XP_011536179.1:n.7181+125del | |
| XM_017018787.1:c.4097+125del | XP_016874276.1:n.4097+125del | |
| XM_017018788.2:c.3443+125del | XP_016874277.1:n.3443+125del | |
| XM_024448833.1:c.5978+125del | XP_024304601.1:n.5978+125del | |
| XR_944868.2:n.485-8846del | ||
| NM_198578.4:c.7181+125del MANE Select | NP_940980.4:n.7181+125del |