Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536383_42536392delinsAGCC , CM000679.2:g.42536383_42536392delinsAGCC | GRCh38 |
| NC_000017.10:g.40688401_40688410delinsAGCC , CM000679.1:g.40688401_40688410delinsAGCC | GRCh37 |
| NC_000017.9:g.37941927_37941936delinsAGCC | NCBI36 |
| NG_011552.1:g.5451_5460delinsAGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.111_120delinsAGCC MANE Select | ENSP00000225927.1:p.Arg38_Leu40delinsAla | |
| ENST00000225927.6:c.111_120delinsAGCC | ENSP00000225927.1:p.Arg38_Leu40delinsAla | |
| NM_000263.3:c.111_120delinsAGCC | NP_000254.2:p.Arg38_Leu40delinsAla | |
| XM_024450771.1:c.111_120delinsAGCC | XP_024306539.1:p.Arg38_Leu40delinsAla | |
| NM_000263.4:c.111_120delinsAGCC MANE Select | NP_000254.2:p.Arg38_Leu40delinsAla |