Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745928_41745929insTGCCGG , CM000666.2:g.41745928_41745929insTGCCGG | GRCh38 |
| NC_000004.11:g.41747945_41747946insTGCCGG , CM000666.1:g.41747945_41747946insTGCCGG | GRCh37 |
| NC_000004.10:g.41442702_41442703insTGCCGG | NCBI36 |
| NG_008243.1:g.8047_8048insACCGGC , LRG_513:g.8047_8048insACCGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.828_829insACCGGC MANE Select | ENSP00000226382.2:p.Gly276_Pro277insThrGly | |
| ENST00000226382.3:c.828_829insACCGGC | ENSP00000226382.2:p.Gly276_Pro277insThrGly | |
| NM_003924.3:c.828_829insACCGGC , LRG_513t1:c.828_829insACCGGC | NP_003915.2:p.Gly276_Pro277insThrGly | |
| NM_003924.4:c.828_829insACCGGC MANE Select | NP_003915.2:p.Gly276_Pro277insThrGly |