Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990712_45990713del , CM000683.2:g.45990712_45990713del | GRCh38 |
| NC_000021.8:g.47410626_47410627del , CM000683.1:g.47410626_47410627del | GRCh37 |
| NC_000021.7:g.46235054_46235055del | NCBI36 |
| NG_008674.1:g.13964_13965del , LRG_475:g.13964_13965del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1003-61_1003-60del MANE Select | ENSP00000355180.3:n.1003-61_1003-60del | |
| ENST00000361866.7:c.1003-61_1003-60del | ENSP00000355180.3:n.1003-61_1003-60del | |
| ENST00000612273.1:c.1003-61_1003-60del | ENSP00000483630.1:n.1003-61_1003-60del | |
| NM_001848.2:c.1003-61_1003-60del , LRG_475t1:c.1003-61_1003-60del | NP_001839.2:n.1003-61_1003-60del | |
| NM_001848.3:c.1003-61_1003-60del MANE Select | NP_001839.2:n.1003-61_1003-60del |