Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485300_143485306del , CM000668.2:g.143485300_143485306del | GRCh38 |
| NC_000006.11:g.143806437_143806443del , CM000668.1:g.143806437_143806443del | GRCh37 |
| NC_000006.10:g.143848130_143848136del | NCBI36 |
| NG_008459.1:g.39520_39526del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.1038+52_1038+58del MANE Select | ENSP00000356563.4:n.1038+52_1038+58del | |
| ENST00000367591.4:c.1038+52_1038+58del | ENSP00000356563.4:n.1038+52_1038+58del | |
| ENST00000585848.1:n.177+52_177+58del | ||
| NM_003630.2:c.1038+52_1038+58del | NP_003621.1:n.1038+52_1038+58del | |
| NM_003630.3:c.1038+52_1038+58del MANE Select | NP_003621.1:n.1038+52_1038+58del |