Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485312_143485339del , CM000668.2:g.143485312_143485339del | GRCh38 |
| NC_000006.11:g.143806449_143806476del , CM000668.1:g.143806449_143806476del | GRCh37 |
| NC_000006.10:g.143848142_143848169del | NCBI36 |
| NG_008459.1:g.39532_39559del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.1038+64_1038+91del MANE Select | ENSP00000356563.4:n.1038+64_1038+91del | |
| ENST00000367591.4:c.1038+64_1038+91del | ENSP00000356563.4:n.1038+64_1038+91del | |
| ENST00000585848.1:n.177+64_177+91del | ||
| NM_003630.2:c.1038+64_1038+91del | NP_003621.1:n.1038+64_1038+91del | |
| NM_003630.3:c.1038+64_1038+91del MANE Select | NP_003621.1:n.1038+64_1038+91del |