Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111362_118111364del , CM000670.2:g.118111362_118111364del | GRCh38 |
| NC_000008.10:g.119123601_119123603del , CM000670.1:g.119123601_119123603del | GRCh37 |
| NC_000008.9:g.119192782_119192784del | NCBI36 |
| NG_007455.2:g.5458_5460del , LRG_493:g.5458_5460del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-316_-314del MANE Select | ENSP00000367446.3:n.-316_-314del | |
| ENST00000378204.6:c.-316_-314del | ENSP00000367446.2:n.-316_-314del | |
| NM_000127.2:c.-316_-314del , LRG_493t1:c.-316_-314del | NP_000118.2:n.-316_-314del | |
| NM_000127.3:c.-316_-314del MANE Select | NP_000118.2:n.-316_-314del |