Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10021323_10021324delinsCA , CM000681.2:g.10021323_10021324delinsCA | GRCh38 |
| NC_000019.9:g.10131999_10132000delinsCA , CM000681.1:g.10131999_10132000delinsCA | GRCh37 |
| NC_000019.8:g.9992999_9993000delinsCA | NCBI36 |
| NG_033979.1:g.13075_13076delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000591589.3:c.605_606delinsCA MANE Select | ENSP00000466058.2:p.Met202Thr | |
| ENST00000651512.1:c.665_666delinsCA | ENSP00000498711.1:p.Met222Thr | |
| ENST00000587782.1:c.50_51delinsCA | ||
| ENST00000591589.1:c.665_666delinsCA | ENSP00000466058.1:p.Met222Thr | |
| NM_015725.2:c.665_666delinsCA | NP_056540.2:p.Met222Thr | |
| NM_015725.3:c.605_606delinsCA | NP_056540.3:p.Met202Thr | |
| NM_015725.4:c.605_606delinsCA MANE Select | NP_056540.3:p.Met202Thr |