Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965974_37965977delinsCCGA , CM000670.2:g.37965974_37965977delinsCCGA | GRCh38 |
| NC_000008.10:g.37823492_37823495delinsCCGA , CM000670.1:g.37823492_37823495delinsCCGA | GRCh37 |
| NC_000008.9:g.37942649_37942652delinsCCGA | NCBI36 |
| NG_011936.1:g.5690_5693delinsTCGG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.493_496delinsTCGG MANE Select | NP_000016.1:p.Ser165= |
| ENST00000345060.5:c.493_496delinsTCGG MANE Select | ENSP00000343782.3:p.Ser165= |
| NM_000025.2:c.493_496delinsTCGG | NP_000016.1:p.Ser165= |
| ENST00000345060.4:c.493_496delinsTCGG | ENSP00000343782.3:p.Ser165= |
| ENST00000520341.2:n.621_624delinsTCGG | |
| ENST00000614635.1:c.493_496delinsTCGG | ENSP00000480325.1:p.Ser165= |