Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010938_21010939delinsTG , CM000664.2:g.21010938_21010939delinsTG | GRCh38 |
| NC_000002.11:g.21233810_21233811delinsTG , CM000664.1:g.21233810_21233811delinsTG | GRCh37 |
| NC_000002.10:g.21087315_21087316delinsTG | NCBI36 |
| NG_011793.1:g.38135_38136delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.5929_5930delinsCA MANE Select | ENSP00000233242.1:p.Gln1977= | |
| ENST00000616098.4:c.5929_5930delinsCA | ENSP00000477990.1:p.Gln1977= | |
| NM_000384.2:c.5929_5930delinsCA | NP_000375.2:p.Gln1977= | |
| XM_011532809.1:c.5864+65_5864+66delinsCA | XP_011531111.1:n.5864+65_5864+66delinsCA | |
| NM_000384.3:c.5929_5930delinsCA MANE Select | NP_000375.3:p.Gln1977= |