Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567662_137567663delinsAA , CM000685.2:g.137567662_137567663delinsAA | GRCh38 |
| NC_000023.10:g.136649821_136649822delinsAA , CM000685.1:g.136649821_136649822delinsAA | GRCh37 |
| NC_000023.9:g.136477487_136477488delinsAA | NCBI36 |
| NG_008115.1:g.6476_6477delinsAA | |
| NG_008115.2:g.6536_6537delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003413.4:c.971_972delinsAA MANE Select | NP_003404.1:p.Gly324Glu |
| ENST00000287538.10:c.971_972delinsAA MANE Select | ENSP00000287538.5:p.Gly324Glu |
| NM_001330661.1:c.971_972delinsAA | NP_001317590.1:p.Gly324Glu |
| NM_003413.3:c.971_972delinsAA | NP_003404.1:p.Gly324Glu |
| ENST00000287538.9:c.971_972delinsAA | ENSP00000287538.5:p.Gly324Glu |
| ENST00000370606.3:c.971_972delinsAA | ENSP00000359638.3:p.Gly324Glu |