Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8013124_8013125delinsTC , CM000679.2:g.8013124_8013125delinsTC | GRCh38 |
| NC_000017.10:g.7916442_7916443delinsTC , CM000679.1:g.7916442_7916443delinsTC | GRCh37 |
| NC_000017.9:g.7857167_7857168delinsTC | NCBI36 |
| NG_009092.1:g.15455_15456delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000180.4:c.2135_2136delinsTC MANE Select | NP_000171.1:p.Glu712Val |
| ENST00000254854.5:c.2135_2136delinsTC MANE Select | ENSP00000254854.4:p.Glu712Val |
| NM_000180.3:c.2135_2136delinsTC | NP_000171.1:p.Glu712Val |
| ENST00000254854.4:c.2135_2136delinsTC | ENSP00000254854.4:p.Glu712Val |
| XM_011523816.1:c.2135_2136delinsTC | XP_011522118.1:p.Glu712Val |