Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028583_135028584delinsGA , CM000667.2:g.135028583_135028584delinsGA | GRCh38 |
| NC_000005.9:g.134364273_134364274delinsGA , CM000667.1:g.134364273_134364274delinsGA | GRCh37 |
| NC_000005.8:g.134392172_134392173delinsGA | NCBI36 |
| NG_012114.1:g.10691_10692delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*195_*196delinsTC MANE Select | ENSP00000265340.6:n.*195_*196delinsTC | |
| ENST00000265340.11:c.*195_*196delinsTC | ENSP00000265340.6:n.*195_*196delinsTC | |
| ENST00000506438.5:c.*195_*196delinsTC | ENSP00000427542.1:n.*195_*196delinsTC | |
| NM_002653.4:c.*195_*196delinsTC | NP_002644.4:n.*195_*196delinsTC | |
| NM_002653.5:c.*195_*196delinsTC MANE Select | NP_002644.4:n.*195_*196delinsTC |