Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35841711_35841714del , CM000681.2:g.35841711_35841714del | GRCh38 |
| NC_000019.9:g.36332613_36332616del , CM000681.1:g.36332613_36332616del | GRCh37 |
| NC_000019.8:g.41024453_41024456del | NCBI36 |
| NG_013356.2:g.32575_32578del , LRG_693:g.32575_32578del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.2815+2_2815+5del MANE Select | ENSP00000368190.4:n.2815+2_2815+5del | |
| ENST00000353632.6:c.2815+2_2815+5del | ENSP00000343634.5:n.2815+2_2815+5del | |
| ENST00000378910.9:c.2815+2_2815+5del | ENSP00000368190.4:n.2815+2_2815+5del | |
| NM_004646.3:c.2815+2_2815+5del , LRG_693t1:c.2815+2_2815+5del | NP_004637.1:n.2815+2_2815+5del | |
| NM_004646.4:c.2815+2_2815+5del MANE Select | NP_004637.1:n.2815+2_2815+5del |