Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202377545_202377550del , CM000664.2:g.202377545_202377550del | GRCh38 |
| NC_000002.11:g.203242268_203242273del , CM000664.1:g.203242268_203242273del | GRCh37 |
| NC_000002.10:g.202950513_202950518del | NCBI36 |
| NG_009363.1:g.6219_6224del , LRG_712:g.6219_6224del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.71_76del MANE Select | ENSP00000363708.4:p.Ala25_Ala26del | |
| ENST00000374574.2:c.71_76del | ENSP00000363702.2:p.Ala25_Ala26del | |
| ENST00000374580.8:c.71_76del | ENSP00000363708.4:p.Ala25_Ala26del | |
| NM_001204.6:c.71_76del , LRG_712t1:c.71_76del | NP_001195.2:p.Ala25_Ala26del | |
| XM_011511687.1:c.71_76del | XP_011509989.1:p.Ala25_Ala26del | |
| XM_011511688.1:c.71_76del | XP_011509990.1:p.Ala25_Ala26del | |
| NM_001204.7:c.71_76del MANE Select | NP_001195.2:p.Ala25_Ala26del |