Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34255911_34255912delinsTC , CM000679.2:g.34255911_34255912delinsTC | GRCh38 |
| NC_000017.10:g.32582930_32582931delinsTC , CM000679.1:g.32582930_32582931delinsTC | GRCh37 |
| NC_000017.9:g.29607043_29607044delinsTC | NCBI36 |
| NG_012123.1:g.5635_5636delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.77-311_77-310delinsTC | ENSP00000462156.1:n.77-311_77-310delinsTC | |
| ENST00000624362.2:n.627_628delinsTC | ||
| ENST00000225831.4:c.77-311_77-310delinsTC MANE Select | ENSP00000225831.4:n.77-311_77-310delinsTC | |
| ENST00000580907.5:c.77-311_77-310delinsTC | ENSP00000462156.1:n.77-311_77-310delinsTC | |
| ENST00000624362.1:n.694_695delinsTC | ||
| NM_002982.3:c.77-311_77-310delinsTC | NP_002973.1:n.77-311_77-310delinsTC | |
| NM_002982.4:c.77-311_77-310delinsTC MANE Select | NP_002973.1:n.77-311_77-310delinsTC |