Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010725_21010736delinsTTCTCAACGGCA , CM000664.2:g.21010725_21010736delinsTTCTCAACGGCA | GRCh38 |
| NC_000002.11:g.21233597_21233608delinsTTCTCAACGGCA , CM000664.1:g.21233597_21233608delinsTTCTCAACGGCA | GRCh37 |
| NC_000002.10:g.21087102_21087113delinsTTCTCAACGGCA | NCBI36 |
| NG_011793.1:g.38338_38349delinsTGCCGTTGAGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6132_6143delinsTGCCGTTGAGAA MANE Select | ENSP00000233242.1:p.Asp2044= | |
| ENST00000616098.4:c.6132_6143delinsTGCCGTTGAGAA | ENSP00000477990.1:p.Asp2044= | |
| NM_000384.2:c.6132_6143delinsTGCCGTTGAGAA | NP_000375.2:p.Asp2044= | |
| XM_011532809.1:c.5866_5869+8delinsTGCCGTTGAGAA | ||
| NM_000384.3:c.6132_6143delinsTGCCGTTGAGAA MANE Select | NP_000375.3:p.Asp2044= |