Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137569000_137569026del , CM000685.2:g.137569000_137569026del | GRCh38 |
| NC_000023.10:g.136651159_136651185del , CM000685.1:g.136651159_136651185del | GRCh37 |
| NC_000023.9:g.136478825_136478851del | NCBI36 |
| NG_008115.1:g.7814_7840del | |
| NG_008115.2:g.7874_7900del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003413.4:c.1159_1185del MANE Select | NP_003404.1:p.Pro387_Lys395del |
| ENST00000287538.10:c.1159_1185del MANE Select | ENSP00000287538.5:p.Pro387_Lys395del |
| NM_001330661.1:c.1159_1185del | NP_001317590.1:p.Pro387_Lys395del |
| NM_003413.3:c.1159_1185del | NP_003404.1:p.Pro387_Lys395del |
| ENST00000287538.9:c.1159_1185del | ENSP00000287538.5:p.Pro387_Lys395del |
| ENST00000370606.3:c.1159_1185del | ENSP00000359638.3:p.Pro387_Lys395del |
| ENST00000478471.1:n.196_222del |