Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966081_154966082delinsA , CM000685.2:g.154966081_154966082delinsA | GRCh38 |
| NC_000023.10:g.154194356_154194357delinsA , CM000685.1:g.154194356_154194357delinsA | GRCh37 |
| NC_000023.9:g.153847550_153847551delinsA | NCBI36 |
| NG_011403.1:g.61642_61643delinsT | |
| NG_011403.2:g.61642_61643delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1331_1332delinsT MANE Select | ENSP00000353393.4:p.Lys444MetfsTer? | |
| ENST00000647125.1:c.*1207_*1208delinsT | ENSP00000496062.1:n.*1207_*1208delinsT | |
| ENST00000360256.8:c.1331_1332delinsT | ENSP00000353393.4:p.Lys444MetfsTer? | |
| ENST00000483822.2:n.151_152delinsT | ||
| NM_000132.3:c.1331_1332delinsT | NP_000123.1:p.Lys444MetfsTer? | |
| XM_011531126.1:c.1226_1227delinsT | XP_011529428.1:p.Lys409MetfsTer? | |
| NM_000132.4:c.1331_1332delinsT MANE Select | NP_000123.1:p.Lys444MetfsTer? |