Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709457_114709458delinsAT , CM000663.2:g.114709457_114709458delinsAT | GRCh38 |
| NC_000001.10:g.115252078_115252079delinsAT , CM000663.1:g.115252078_115252079delinsAT | GRCh37 |
| NC_000001.9:g.115053601_115053602delinsAT | NCBI36 |
| NG_007572.1:g.12437_12438delinsAT , LRG_92:g.12437_12438delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.450+111_450+112delinsAT MANE Select | ENSP00000358548.4:n.450+111_450+112delinsAT | |
| ENST00000369535.4:c.450+111_450+112delinsAT | ENSP00000358548.4:n.450+111_450+112delinsAT | |
| NM_002524.4:c.450+111_450+112delinsAT | NP_002515.1:n.450+111_450+112delinsAT | |
| NM_002524.5:c.450+111_450+112delinsAT MANE Select | NP_002515.1:n.450+111_450+112delinsAT |