Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624486_41624487delinsGA , CM000679.2:g.41624486_41624487delinsGA | GRCh38 |
| NC_000017.10:g.39780738_39780739delinsGA , CM000679.1:g.39780738_39780739delinsGA | GRCh37 |
| NC_000017.9:g.37034264_37034265delinsGA | NCBI36 |
| NG_008625.1:g.5144_5145delinsTC | |
| NG_009090.2:g.167226_167227delinsTC , LRG_401:g.167226_167227delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.23_24delinsTC MANE Select | ENSP00000308452.8:p.Phe8= | |
| ENST00000311208.12:c.23_24delinsTC | ENSP00000308452.8:p.Phe8= | |
| ENST00000463128.5:c.-313+256_-313+257delinsTC | ENSP00000468672.1:n.-313+256_-313+257delinsTC | |
| ENST00000491673.1:n.89_90delinsTC | ||
| ENST00000540235.5:c.-183_-182delinsTC | ENSP00000441751.2:n.-183_-182delinsTC | |
| NM_000422.2:c.23_24delinsTC | NP_000413.1:p.Phe8= | |
| NM_000422.3:c.23_24delinsTC MANE Select | NP_000413.1:p.Phe8= |