Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380193_48380202del , CM000675.2:g.48380193_48380202del | GRCh38 |
| NC_000013.10:g.48954329_48954338del , CM000675.1:g.48954329_48954338del | GRCh37 |
| NC_000013.9:g.47852330_47852339del | NCBI36 |
| NG_009009.1:g.81447_81456del , LRG_517:g.81447_81456del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1450_1459del MANE Select | ENSP00000267163.4:p.Met484TrpfsTer8 | |
| ENST00000650461.1:c.1450_1459del | ENSP00000497193.1:p.Met484TrpfsTer8 | |
| ENST00000267163.4:c.1450_1459del | ENSP00000267163.4:p.Met484TrpfsTer8 | |
| NM_000321.2:c.1450_1459del , LRG_517t1:c.1450_1459del | NP_000312.2:p.Met484TrpfsTer8 | |
| XM_011535171.1:c.1189_1198del | XP_011533473.1:p.Met397TrpfsTer8 | |
| XM_011535171.2:c.1189_1198del | XP_011533473.1:p.Met397TrpfsTer8 | |
| NM_000321.3:c.1450_1459del MANE Select | NP_000312.2:p.Met484TrpfsTer8 |