Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028548_135028554delinsGCTTTTT , CM000667.2:g.135028548_135028554delinsGCTTTTT | GRCh38 |
| NC_000005.9:g.134364238_134364244delinsGCTTTTT , CM000667.1:g.134364238_134364244delinsGCTTTTT | GRCh37 |
| NC_000005.8:g.134392137_134392143delinsGCTTTTT | NCBI36 |
| NG_012114.1:g.10721_10727delinsAAAAAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*225_*231delinsAAAAAGC MANE Select | ENSP00000265340.6:n.*225_*231delinsAAAAAGC | |
| ENST00000265340.11:c.*225_*231delinsAAAAAGC | ENSP00000265340.6:n.*225_*231delinsAAAAAGC | |
| NM_002653.4:c.*225_*231delinsAAAAAGC | NP_002644.4:n.*225_*231delinsAAAAAGC | |
| NM_002653.5:c.*225_*231delinsAAAAAGC MANE Select | NP_002644.4:n.*225_*231delinsAAAAAGC |