Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401750_94401752delinsCTT , CM000669.2:g.94401750_94401752delinsCTT | GRCh38 |
| NC_000007.13:g.94031062_94031064delinsCTT , CM000669.1:g.94031062_94031064delinsCTT | GRCh37 |
| NC_000007.12:g.93868998_93869000delinsCTT | NCBI36 |
| NG_007405.1:g.12190_12192delinsCTT , LRG_2:g.12190_12192delinsCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.279+130_279+132delinsCTT MANE Select | ENSP00000297268.6:n.279+130_279+132delinsCTT | |
| ENST00000297268.10:c.279+130_279+132delinsCTT | ENSP00000297268.6:n.279+130_279+132delinsCTT | |
| ENST00000620463.1:c.273+130_273+132delinsCTT | ENSP00000477719.1:n.273+130_273+132delinsCTT | |
| NM_000089.3:c.279+130_279+132delinsCTT , LRG_2t1:c.279+130_279+132delinsCTT | NP_000080.2:n.279+130_279+132delinsCTT | |
| NM_000089.4:c.279+130_279+132delinsCTT MANE Select | NP_000080.2:n.279+130_279+132delinsCTT |