Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1609999_1610000insCTC , CM000668.2:g.1609999_1610000insCTC | GRCh38 |
| NC_000006.11:g.1610234_1610235insCTC , CM000668.1:g.1610234_1610235insCTC | GRCh37 |
| NC_000006.10:g.1555233_1555234insCTC | NCBI36 |
| NG_009368.1:g.4554_4555insCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.-447_-446insCTC MANE Select | ENSP00000493906.1:n.-447_-446insCTC | |
| ENST00000380874.3:c.-447_-446insCTC | ENSP00000370256.2:n.-447_-446insCTC | |
| NM_001453.3:c.-447_-446insCTC MANE Select | NP_001444.2:n.-447_-446insCTC |