Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414404_1414405insCCGGGAGGG , CM000667.2:g.1414404_1414405insCCGGGAGGG | GRCh38 |
| NC_000005.9:g.1414519_1414520insCCGGGAGGG , CM000667.1:g.1414519_1414520insCCGGGAGGG | GRCh37 |
| NC_000005.8:g.1467519_1467520insCCGGGAGGG | NCBI36 |
| NG_015885.1:g.36027_36028insTCCCGGCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+289_1156+290insTCCCGGCCC MANE Select | ENSP00000270349.9:n.1156+289_1156+290insTCCCGGCCC | |
| ENST00000270349.11:c.1156+289_1156+290insTCCCGGCCC | ENSP00000270349.9:n.1156+289_1156+290insTCCCGGCCC | |
| NM_001044.4:c.1156+289_1156+290insTCCCGGCCC | NP_001035.1:n.1156+289_1156+290insTCCCGGCCC | |
| NM_001044.5:c.1156+289_1156+290insTCCCGGCCC MANE Select | NP_001035.1:n.1156+289_1156+290insTCCCGGCCC |