Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23421300_23421301delinsCT , CM000676.2:g.23421300_23421301delinsCT | GRCh38 |
| NC_000014.8:g.23890509_23890510delinsCT , CM000676.1:g.23890509_23890510delinsCT | GRCh37 |
| NC_000014.7:g.22960349_22960350delinsCT | NCBI36 |
| NG_007884.1:g.19361_19362delinsAG , LRG_384:g.19361_19362delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3246-253_3246-252delinsAG MANE Select | ENSP00000347507.3:n.3246-253_3246-252delinsAG | |
| ENST00000355349.3:c.3246-253_3246-252delinsAG | ENSP00000347507.3:n.3246-253_3246-252delinsAG | |
| NM_000257.3:c.3246-253_3246-252delinsAG | NP_000248.2:n.3246-253_3246-252delinsAG | |
| XR_245686.3:n.3354-253_3354-252delinsAG | ||
| XM_017021340.1:c.3246-253_3246-252delinsAG | XP_016876829.1:n.3246-253_3246-252delinsAG | |
| NM_000257.4:c.3246-253_3246-252delinsAG MANE Select | NP_000248.2:n.3246-253_3246-252delinsAG |