Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114705849_114705850delinsCT , CM000663.2:g.114705849_114705850delinsCT | GRCh38 |
| NC_000001.10:g.115248470_115248471delinsCT , CM000663.1:g.115248470_115248471delinsCT | GRCh37 |
| NC_000001.9:g.115049993_115049994delinsCT | NCBI36 |
| NG_007572.1:g.16045_16046delinsAG , LRG_92:g.16045_16046delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.*2244_*2245delinsAG MANE Select | ENSP00000358548.4:n.*2244_*2245delinsAG | |
| ENST00000369535.4:c.*2244_*2245delinsAG | ENSP00000358548.4:n.*2244_*2245delinsAG | |
| NM_002524.4:c.*2244_*2245delinsAG | NP_002515.1:n.*2244_*2245delinsAG | |
| NM_002524.5:c.*2244_*2245delinsAG MANE Select | NP_002515.1:n.*2244_*2245delinsAG |