Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213579_1213580delinsTC , CM000667.2:g.1213579_1213580delinsTC | GRCh38 |
| NC_000005.9:g.1213694_1213695delinsTC , CM000667.1:g.1213694_1213695delinsTC | GRCh37 |
| NC_000005.8:g.1266694_1266695delinsTC | NCBI36 |
| NG_008282.1:g.16985_16986delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.774+6_774+7delinsTC MANE Select | ENSP00000305302.10:n.774+6_774+7delinsTC | |
| ENST00000304460.10:c.774+6_774+7delinsTC | ENSP00000305302.10:n.774+6_774+7delinsTC | |
| ENST00000515652.5:c.682+6_682+7delinsTC | ENSP00000425701.1:n.682+6_682+7delinsTC | |
| NM_001003841.2:c.774+6_774+7delinsTC | NP_001003841.1:n.774+6_774+7delinsTC | |
| NM_001003841.3:c.774+6_774+7delinsTC MANE Select | NP_001003841.1:n.774+6_774+7delinsTC |