Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028541_135028548delinsTCTTTTTG , CM000667.2:g.135028541_135028548delinsTCTTTTTG | GRCh38 |
| NC_000005.9:g.134364231_134364238delinsTCTTTTTG , CM000667.1:g.134364231_134364238delinsTCTTTTTG | GRCh37 |
| NC_000005.8:g.134392130_134392137delinsTCTTTTTG | NCBI36 |
| NG_012114.1:g.10727_10734delinsCAAAAAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*231_*238delinsCAAAAAGA MANE Select | ENSP00000265340.6:n.*231_*238delinsCAAAAAGA | |
| ENST00000265340.11:c.*231_*238delinsCAAAAAGA | ENSP00000265340.6:n.*231_*238delinsCAAAAAGA | |
| NM_002653.4:c.*231_*238delinsCAAAAAGA | NP_002644.4:n.*231_*238delinsCAAAAAGA | |
| NM_002653.5:c.*231_*238delinsCAAAAAGA MANE Select | NP_002644.4:n.*231_*238delinsCAAAAAGA |