gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32796288_32796289del , CM000674.2:g.32796288_32796289del | GRCh38 |
| NC_000012.11:g.32949222_32949223del , CM000674.1:g.32949222_32949223del | GRCh37 |
| NC_000012.10:g.32840489_32840490del | NCBI36 |
| NG_009000.1:g.105561_105562del , LRG_398:g.105561_105562del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.683_684del | ||
| ENST00000700557.2:n.272_273del | ||
| ENST00000700559.2:c.2168-3555_2168-3554del | ENSP00000515065.2:n.2168-3555_2168-3554del | |
| ENST00000546498.2:n.867_868del | ||
| ENST00000549461.2:n.672_673del | ||
| ENST00000700555.1:c.611_612del | ENSP00000515062.1:p.Leu204ProfsTer2 | |
| ENST00000700556.1:c.651_652del | ||
| ENST00000700557.1:c.191_192del | ENSP00000515064.1:p.Leu64ProfsTer2 | |
| ENST00000700558.1:n.394_395del | ||
| ENST00000700559.1:c.1383-3555_1383-3554del | ||
| ENST00000700560.1:n.1395_1396del | ||
| ENST00000700561.1:n.1521_1522del | ||
| ENST00000070846.11:c.2312_2313del | ENSP00000070846.6:p.Leu771ProfsTer2 | |
| ENST00000340811.9:c.2180_2181del MANE Select | ENSP00000342800.5:p.Leu727ProfsTer2 | |
| ENST00000070846.10:c.2312_2313del | ENSP00000070846.6:p.Leu771ProfsTer2 | |
| ENST00000340811.8:c.2180_2181del | ENSP00000342800.4:p.Leu727ProfsTer2 | |
| ENST00000613243.1:c.2312_2313del | ENSP00000478295.1:p.Leu771ProfsTer2 | |
| NM_001005242.2:c.2180_2181del | NP_001005242.2:p.Leu727ProfsTer2 | |
| NM_004572.3:c.2312_2313del , LRG_398t1:c.2312_2313del | NP_004563.2:p.Leu771ProfsTer2 | |
| NM_001005242.3:c.2180_2181del MANE Select | NP_001005242.2:p.Leu727ProfsTer2 | |
| NM_004572.4:c.2312_2313del | NP_004563.2:p.Leu771ProfsTer2 |