gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646212del , CM000667.2:g.71646212del | GRCh38 |
| NC_000005.9:g.70942039del , CM000667.1:g.70942039del | GRCh37 |
| NC_000005.8:g.70977795del | NCBI36 |
| NG_008882.1:g.63925del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2759del | ||
| ENST00000505787.8:n.2982del | ||
| ENST00000509539.3:c.477del | ||
| ENST00000681968.1:c.644del | ||
| ENST00000681991.1:n.1235del | ||
| ENST00000682045.1:c.1007del | ||
| ENST00000682214.1:c.758del | ||
| ENST00000682231.1:n.169del | ||
| ENST00000682438.1:n.3150del | ||
| ENST00000682499.1:n.1972del | ||
| ENST00000682541.1:c.*49del | ||
| ENST00000682640.1:n.855del | ||
| ENST00000682667.1:n.1316del | ||
| ENST00000682687.1:c.*103del | ||
| ENST00000682727.1:c.1142del | ||
| ENST00000682876.1:c.1280del | ||
| ENST00000683098.1:c.805del | ||
| ENST00000683258.1:c.*872del | ||
| ENST00000683339.1:c.935del | ||
| ENST00000683403.1:c.1061del | ||
| ENST00000683429.1:c.758del | ||
| ENST00000683789.1:c.1037del | ||
| ENST00000683847.1:n.1321del | ||
| ENST00000683882.1:c.*92del | ||
| ENST00000684024.1:c.*822del | ||
| ENST00000684132.1:c.79del | ||
| ENST00000684254.1:c.*877del | ||
| ENST00000684310.1:c.317del | ||
| ENST00000684474.1:n.787del | ||
| ENST00000684530.1:c.335-2885del | ENSP00000507439.1:n.335-2885del | |
| ENST00000684686.1:n.770del | ||
| ENST00000340941.11:c.1151del | ||
| ENST00000340941.10:c.1151del | ||
| ENST00000509539.2:c.467del | ||
| ENST00000512218.6:c.*103del | ||
| NM_022132.4:c.1151del | ||
| XM_005248567.1:c.1037del | ||
| NM_001363147.1:c.1037del | ||
| XR_001742172.1:n.1239del | ||
| NM_022132.5:c.1151del |