Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312492_21312493delinsCA , CM000676.2:g.21312492_21312493delinsCA | GRCh38 |
| NC_000014.8:g.21780651_21780652delinsCA , CM000676.1:g.21780651_21780652delinsCA | GRCh37 |
| NC_000014.7:g.20850491_20850492delinsCA | NCBI36 |
| NG_008933.1:g.29516_29517delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1137_1138delinsCA MANE Select | ENSP00000382895.2:p.Asp379= | |
| ENST00000400017.6:c.1137_1138delinsCA | ENSP00000382895.2:p.Asp379= | |
| ENST00000556336.5:c.1056_1057delinsCA | ENSP00000450445.1:p.Asp352= | |
| ENST00000557771.5:c.1056_1057delinsCA | ENSP00000451219.1:p.Asp352= | |
| NM_020366.3:c.1137_1138delinsCA | NP_065099.3:p.Asp379= | |
| XM_011536983.1:c.1104_1105delinsCA | XP_011535285.1:p.Asp368= | |
| NM_020366.4:c.1137_1138delinsCA MANE Select | NP_065099.3:p.Asp379= |