Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134500026_134500028delinsTTT , CM000685.2:g.134500026_134500028delinsTTT | GRCh38 |
| NC_000023.10:g.133634056_133634058delinsTTT , CM000685.1:g.133634056_133634058delinsTTT | GRCh37 |
| NC_000023.9:g.133461722_133461724delinsTTT | NCBI36 |
| NG_012329.1:g.44882_44884delinsTTT | |
| NG_012329.2:g.44882_44884delinsTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.610-4_610-2delinsTTT MANE Select | ENSP00000298556.7:n.610-4_610-2delinsTTT | |
| ENST00000298556.7:c.610-4_610-2delinsTTT | ENSP00000298556.7:n.610-4_610-2delinsTTT | |
| ENST00000475720.1:n.567+1342_567+1344delinsTTT | ||
| NM_000194.2:c.610-4_610-2delinsTTT | NP_000185.1:n.610-4_610-2delinsTTT | |
| XM_011531328.1:c.628-4_628-2delinsTTT | XP_011529630.1:n.628-4_628-2delinsTTT | |
| NM_000194.3:c.610-4_610-2delinsTTT MANE Select | NP_000185.1:n.610-4_610-2delinsTTT |