Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566856_137566861delinsCTTCAA , CM000685.2:g.137566856_137566861delinsCTTCAA | GRCh38 |
| NC_000023.10:g.136649015_136649020delinsCTTCAA , CM000685.1:g.136649015_136649020delinsCTTCAA | GRCh37 |
| NC_000023.9:g.136476681_136476686delinsCTTCAA | NCBI36 |
| NG_008115.1:g.5670_5675delinsCTTCAA | |
| NG_008115.2:g.5730_5735delinsCTTCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.165_170delinsCTTCAA MANE Select | ENSP00000287538.5:p.Ala55= | |
| ENST00000287538.9:c.165_170delinsCTTCAA | ENSP00000287538.5:p.Ala55= | |
| ENST00000370606.3:c.165_170delinsCTTCAA | ENSP00000359638.3:p.Ala55= | |
| NM_003413.3:c.165_170delinsCTTCAA | NP_003404.1:p.Ala55= | |
| NM_001330661.1:c.165_170delinsCTTCAA | NP_001317590.1:p.Ala55= | |
| NM_003413.4:c.165_170delinsCTTCAA MANE Select | NP_003404.1:p.Ala55= |