Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24302057_24302058delinsAG , CM000668.2:g.24302057_24302058delinsAG | GRCh38 |
| NC_000006.11:g.24302285_24302286delinsAG , CM000668.1:g.24302285_24302286delinsAG | GRCh37 |
| NC_000006.10:g.24410264_24410265delinsAG | NCBI36 |
| NG_012829.1:g.60995_60996delinsCT | |
| NG_012829.2:g.86235_86236delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.349-14_349-13delinsCT MANE Select | ENSP00000367715.3:n.349-14_349-13delinsCT | |
| ENST00000378454.7:c.349-14_349-13delinsCT | ENSP00000367715.3:n.349-14_349-13delinsCT | |
| NM_001195610.1:c.349-14_349-13delinsCT | NP_001182539.1:n.349-14_349-13delinsCT | |
| NM_016356.4:c.349-14_349-13delinsCT | NP_057440.2:n.349-14_349-13delinsCT | |
| NM_016356.5:c.349-14_349-13delinsCT MANE Select | NP_057440.2:n.349-14_349-13delinsCT | |
| NM_001195610.2:c.349-14_349-13delinsCT | NP_001182539.1:n.349-14_349-13delinsCT |