Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202377490_202377494del , CM000664.2:g.202377490_202377494del | GRCh38 |
| NC_000002.11:g.203242213_203242217del , CM000664.1:g.203242213_203242217del | GRCh37 |
| NC_000002.10:g.202950458_202950462del | NCBI36 |
| NG_009363.1:g.6164_6168del , LRG_712:g.6164_6168del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.16_20del MANE Select | ENSP00000363708.4:p.Gln6AlafsTer30 | |
| ENST00000374574.2:c.16_20del | ENSP00000363702.2:p.Gln6AlafsTer30 | |
| ENST00000374580.8:c.16_20del | ENSP00000363708.4:p.Gln6AlafsTer30 | |
| NM_001204.6:c.16_20del , LRG_712t1:c.16_20del | NP_001195.2:p.Gln6AlafsTer30 | |
| XM_011511687.1:c.16_20del | XP_011509989.1:p.Gln6AlafsTer30 | |
| XM_011511688.1:c.16_20del | XP_011509990.1:p.Gln6AlafsTer30 | |
| NM_001204.7:c.16_20del MANE Select | NP_001195.2:p.Gln6AlafsTer30 |