Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188989361_188989376del , CM000664.2:g.188989361_188989376del | GRCh38 |
| NC_000002.11:g.189854087_189854102del , CM000664.1:g.189854087_189854102del | GRCh37 |
| NC_000002.10:g.189562332_189562347del | NCBI36 |
| NG_007404.1:g.19989_20004del , LRG_3:g.19989_20004del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.637-35_637-20del | ENSP00000415346.2:n.637-35_637-20del | |
| ENST00000304636.9:c.637-35_637-20del MANE Select | ENSP00000304408.4:n.637-35_637-20del | |
| ENST00000304636.7:c.637-35_637-20del | ENSP00000304408.3:n.637-35_637-20del | |
| ENST00000317840.9:c.637-35_637-20del | ENSP00000315243.6:n.637-35_637-20del | |
| NM_000090.3:c.637-35_637-20del , LRG_3t1:c.637-35_637-20del | NP_000081.1:n.637-35_637-20del | |
| NM_000090.4:c.637-35_637-20del MANE Select | NP_000081.2:n.637-35_637-20del |