Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224352_52224358delinsGCTCTAC , CM000665.2:g.52224352_52224358delinsGCTCTAC | GRCh38 |
| NC_000003.11:g.52258368_52258374delinsGCTCTAC , CM000665.1:g.52258368_52258374delinsGCTCTAC | GRCh37 |
| NC_000003.10:g.52233408_52233414delinsGCTCTAC | NCBI36 |
| NG_033933.1:g.6806_6812delinsGTAGAGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360658.3:c.4-46_4-40delinsGTAGAGC MANE Select | ENSP00000353874.2:n.4-46_4-40delinsGTAGAG... | |
| ENST00000360658.2:c.4-46_4-40delinsGTAGAGC | ENSP00000353874.2:n.4-46_4-40delinsGTAGAG... | |
| ENST00000478201.1:c.223-91_223-85delinsGTAGAGC | ||
| ENST00000494383.1:c.464-46_464-40delinsGTAGAGC | ||
| NM_017442.3:c.4-46_4-40delinsGTAGAGC | NP_059138.1:n.4-46_4-40delinsGTAGAGC | |
| NM_017442.4:c.4-46_4-40delinsGTAGAGC MANE Select | NP_059138.1:n.4-46_4-40delinsGTAGAGC |