Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135029032_135029033insAGT , CM000667.2:g.135029032_135029033insAGT | GRCh38 |
| NC_000005.9:g.134364722_134364723insAGT , CM000667.1:g.134364722_134364723insAGT | GRCh37 |
| NC_000005.8:g.134392621_134392622insAGT | NCBI36 |
| NG_012114.1:g.10242_10243insACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.691_692insACT MANE Select | ENSP00000265340.6:p.Pro231delinsHisSer | |
| ENST00000265340.11:c.691_692insACT | ENSP00000265340.6:p.Pro231delinsHisSer | |
| ENST00000506438.5:c.691_692insACT | ENSP00000427542.1:p.Pro231delinsHisSer | |
| NM_002653.4:c.691_692insACT | NP_002644.4:p.Pro231delinsHisSer | |
| NM_002653.5:c.691_692insACT MANE Select | NP_002644.4:p.Pro231delinsHisSer |