Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423497_23423498insACACACA , CM000676.2:g.23423497_23423498insACACACA | GRCh38 |
| NC_000014.8:g.23892706_23892707insACACACA , CM000676.1:g.23892706_23892707insACACACA | GRCh37 |
| NC_000014.7:g.22962546_22962547insACACACA | NCBI36 |
| NG_007884.1:g.17164_17165insTGTGTGT , LRG_384:g.17164_17165insTGTGTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3099+49_3099+50insTGTGTGT MANE Select | ENSP00000347507.3:n.3099+49_3099+50insTGTGTGT | |
| ENST00000355349.3:c.3099+49_3099+50insTGTGTGT | ENSP00000347507.3:n.3099+49_3099+50insTGTGTGT | |
| NM_000257.3:c.3099+49_3099+50insTGTGTGT | NP_000248.2:n.3099+49_3099+50insTGTGTGT | |
| XR_245686.3:n.3205+49_3205+50insTGTGTGT | ||
| XM_017021340.1:c.3099+49_3099+50insTGTGTGT | XP_016876829.1:n.3099+49_3099+50insTGTGTGT | |
| NM_000257.4:c.3099+49_3099+50insTGTGTGT MANE Select | NP_000248.2:n.3099+49_3099+50insTGTGTGT |