Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137569025_137569033del , CM000685.2:g.137569025_137569033del | GRCh38 |
| NC_000023.10:g.136651184_136651192del , CM000685.1:g.136651184_136651192del | GRCh37 |
| NC_000023.9:g.136478850_136478858del | NCBI36 |
| NG_008115.1:g.7839_7847del | |
| NG_008115.2:g.7899_7907del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003413.4:c.1184_1192del MANE Select | NP_003404.1:p.Lys395_Tyr397del |
| ENST00000287538.10:c.1184_1192del MANE Select | ENSP00000287538.5:p.Lys395_Tyr397del |
| NM_001330661.1:c.1184_1192del | NP_001317590.1:p.Lys395_Tyr397del |
| NM_003413.3:c.1184_1192del | NP_003404.1:p.Lys395_Tyr397del |
| ENST00000287538.9:c.1184_1192del | ENSP00000287538.5:p.Lys395_Tyr397del |
| ENST00000370606.3:c.1184_1192del | ENSP00000359638.3:p.Lys395_Tyr397del |
| ENST00000478471.1:n.221_229del |