Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111494_118111496del , CM000670.2:g.118111494_118111496del | GRCh38 |
| NC_000008.10:g.119123733_119123735del , CM000670.1:g.119123733_119123735del | GRCh37 |
| NC_000008.9:g.119192914_119192916del | NCBI36 |
| NG_007455.2:g.5328_5330del , LRG_493:g.5328_5330del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-446_-444del MANE Select | ENSP00000367446.3:n.-446_-444del | |
| ENST00000378204.6:c.-446_-444del | ENSP00000367446.2:n.-446_-444del | |
| NM_000127.2:c.-446_-444del , LRG_493t1:c.-446_-444del | NP_000118.2:n.-446_-444del | |
| NM_000127.3:c.-446_-444del MANE Select | NP_000118.2:n.-446_-444del |