Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566839_137566856dup , CM000685.2:g.137566839_137566856dup | GRCh38 |
| NC_000023.10:g.136648998_136649015dup , CM000685.1:g.136648998_136649015dup | GRCh37 |
| NC_000023.9:g.136476664_136476681dup | NCBI36 |
| NG_008115.1:g.5653_5670dup | |
| NG_008115.2:g.5713_5730dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.148_165dup MANE Select | ENSP00000287538.5:p.Ala55_Phe56insAlaAlaAlaAlaAlaAla | |
| ENST00000287538.9:c.148_165dup | ENSP00000287538.5:p.Ala55_Phe56insAlaAlaAlaAlaAlaAla | |
| ENST00000370606.3:c.148_165dup | ENSP00000359638.3:p.Ala55_Phe56insAlaAlaAlaAlaAlaAla | |
| NM_003413.3:c.148_165dup | NP_003404.1:p.Ala55_Phe56insAlaAlaAlaAlaAlaAla | |
| NM_001330661.1:c.148_165dup | NP_001317590.1:p.Ala55_Phe56insAlaAlaAlaAlaAlaAla | |
| NM_003413.4:c.148_165dup MANE Select | NP_003404.1:p.Ala55_Phe56insAlaAlaAlaAlaAlaAla |