Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414697_1414708del , CM000667.2:g.1414697_1414708del | GRCh38 |
| NC_000005.9:g.1414812_1414823del , CM000667.1:g.1414812_1414823del | GRCh37 |
| NC_000005.8:g.1467812_1467823del | NCBI36 |
| NG_015885.1:g.35721_35732del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001044.5:c.1139_1150del MANE Select | NP_001035.1:p.Gly380_Lys384delinsGlu |
| ENST00000270349.12:c.1139_1150del MANE Select | ENSP00000270349.9:p.Gly380_Lys384delinsGlu |
| NM_001044.4:c.1139_1150del | NP_001035.1:p.Gly380_Lys384delinsGlu |
| ENST00000270349.11:c.1139_1150del | ENSP00000270349.9:p.Gly380_Lys384delinsGlu |