Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988929_94988930insCATTTACCTTGTTC , CM000672.2:g.94988929_94988930insCATTTACCTTGTTC | GRCh38 |
| NC_000010.10:g.96748686_96748687insCATTTACCTTGTTC , CM000672.1:g.96748686_96748687insCATTTACCTTGTTC | GRCh37 |
| NC_000010.9:g.96738676_96738677insCATTTACCTTGTTC | NCBI36 |
| NG_008385.1:g.55272_55273insCATTTACCTTGTTC | |
| NG_008385.2:g.55772_55773insCATTTACCTTGTTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.1374_1375insCATTTACCTTGTTC MANE Select | ENSP00000260682.6:p.Lys459HisfsTer? | |
| ENST00000643112.1:c.*383_*384insCATTTACCTTGTTC | ENSP00000496202.1:n.*383_*384insCATTTACCT... | |
| ENST00000260682.6:c.1374_1375insCATTTACCTTGTTC | ENSP00000260682.6:p.Lys459HisfsTer? | |
| NM_000771.3:c.1374_1375insCATTTACCTTGTTC | NP_000762.2:p.Lys459HisfsTer? | |
| NM_000771.4:c.1374_1375insCATTTACCTTGTTC MANE Select | NP_000762.2:p.Lys459HisfsTer? |