Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72243601_72243606delinsAGAGAT , CM000673.2:g.72243601_72243606delinsAGAGAT | GRCh38 |
| NC_000011.9:g.71954645_71954650delinsAGAGAT , CM000673.1:g.71954645_71954650delinsAGAGAT | GRCh37 |
| NC_000011.8:g.71632293_71632298delinsAGAGAT | NCBI36 |
| NG_008169.1:g.5571_5576delinsATCTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298231.5:c.217+182_217+187delinsATCTCT MANE Select | ENSP00000298231.5:n.217+182_217+187delinsATCTCT | |
| ENST00000544057.1:n.85+1974_85+1979delinsATCTCT | ||
| NM_005169.3:c.217+182_217+187delinsATCTCT | NP_005160.2:n.217+182_217+187delinsATCTCT | |
| NM_005169.4:c.217+182_217+187delinsATCTCT MANE Select | NP_005160.2:n.217+182_217+187delinsATCTCT |