Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044110_114044111delinsGC , CM000672.2:g.114044110_114044111delinsGC | GRCh38 |
| NC_000010.10:g.115803869_115803870delinsGC , CM000672.1:g.115803869_115803870delinsGC | GRCh37 |
| NC_000010.9:g.115793859_115793860delinsGC | NCBI36 |
| NG_012187.1:g.5064_5065delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.-23_-22delinsGC MANE Select | ENSP00000358301.2:n.-23_-22delinsGC | |
| ENST00000369295.3:c.-23_-22delinsGC | ENSP00000358301.2:n.-23_-22delinsGC | |
| NM_000684.2:c.-23_-22delinsGC | NP_000675.1:n.-23_-22delinsGC | |
| NM_000684.3:c.-23_-22delinsGC MANE Select | NP_000675.1:n.-23_-22delinsGC |