gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21215810_21215811insTTTT , CM000674.2:g.21215810_21215811insTTTT | GRCh38 |
| NC_000012.11:g.21368744_21368745insTTTT , CM000674.1:g.21368744_21368745insTTTT | GRCh37 |
| NC_000012.10:g.21260011_21260012insTTTT | NCBI36 |
| NG_011745.1:g.89617_89618insTTTT , LRG_1022:g.89617_89618insTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.1498-1309_1498-1308insTTTT MANE Select | ENSP00000256958.2:n.1498-1309_1498-1308insTTTT | |
| ENST00000256958.2:c.1498-1309_1498-1308insTTTT | ENSP00000256958.2:n.1498-1309_1498-1308insTTTT | |
| NM_006446.4:c.1498-1309_1498-1308insTTTT , LRG_1022t1:c.1498-1309_1498-1308insTTTT | NP_006437.3:n.1498-1309_1498-1308insTTTT | |
| NM_006446.5:c.1498-1309_1498-1308insTTTT MANE Select | NP_006437.3:n.1498-1309_1498-1308insTTTT |