Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403074_47403076delinsCTT , CM000664.2:g.47403074_47403076delinsCTT | GRCh38 |
| NC_000002.11:g.47630213_47630215delinsCTT , CM000664.1:g.47630213_47630215delinsCTT | GRCh37 |
| NC_000002.10:g.47483717_47483719delinsCTT | NCBI36 |
| NG_007110.2:g.4951_4953delinsCTT , LRG_218:g.4951_4953delinsCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543555.6:c.-132_-130delinsCTT | ENSP00000442697.1:n.-132_-130delinsCTT | |
| ENST00000233146.6:c.-118_-116delinsCTT | ENSP00000233146.2:n.-118_-116delinsCTT | |
| ENST00000454849.5:c.-132_-130delinsCTT | ENSP00000411482.1:n.-132_-130delinsCTT | |
| ENST00000543555.5:c.-132_-130delinsCTT | ENSP00000442697.1:n.-132_-130delinsCTT | |
| NM_000251.2:c.-118_-116delinsCTT , LRG_218t1:c.-118_-116delinsCTT | NP_000242.1:n.-118_-116delinsCTT | |
| NM_001258281.1:c.-132_-130delinsCTT | NP_001245210.1:n.-132_-130delinsCTT |