Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152311216_152311218del , CM000663.2:g.152311216_152311218del | GRCh38 |
| NC_000001.10:g.152283692_152283694del , CM000663.1:g.152283692_152283694del | GRCh37 |
| NC_000001.9:g.150550316_150550318del | NCBI36 |
| NG_016190.1:g.18987_18989del , LRG_1028:g.18987_18989del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.3669_3671del MANE Select | ENSP00000357789.1:p.Asp1223_Lys1224delinsGlu | |
| ENST00000368799.1:c.3669_3671del | ENSP00000357789.1:p.Asp1223_Lys1224delinsGlu | |
| NM_002016.1:c.3669_3671del , LRG_1028t1:c.3669_3671del | NP_002007.1:p.Asp1223_Lys1224delinsGlu | |
| XM_011509329.1:c.3669_3671del | XP_011507631.1:p.Asp1223_Lys1224delinsGlu | |
| NM_002016.2:c.3669_3671del MANE Select | NP_002007.1:p.Asp1223_Lys1224delinsGlu |