Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123583_72123584insCACACCCAACAC , CM000679.2:g.72123583_72123584insCACACCCAACAC | GRCh38 |
| NC_000017.10:g.70119724_70119725insCACACCCAACAC , CM000679.1:g.70119724_70119725insCACACCCAACAC | GRCh37 |
| NC_000017.9:g.67631319_67631320insCACACCCAACAC | NCBI36 |
| NG_012490.1:g.7564_7565insCACACCCAACAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.726_727insCACACCCAACAC MANE Select | ENSP00000245479.2:p.Lys242_Thr243insHisThrGlnHis | |
| ENST00000245479.2:c.726_727insCACACCCAACAC | ENSP00000245479.2:p.Lys242_Thr243insHisThrGlnHis | |
| NM_000346.3:c.726_727insCACACCCAACAC | NP_000337.1:p.Lys242_Thr243insHisThrGlnHis | |
| NM_000346.4:c.726_727insCACACCCAACAC MANE Select | NP_000337.1:p.Lys242_Thr243insHisThrGlnHis |