Linked Data
gnomAD v4:
4-41745924-G-GCCGGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745929_41745930insTCCGGG , CM000666.2:g.41745929_41745930insTCCGGG | GRCh38 |
| NC_000004.11:g.41747946_41747947insTCCGGG , CM000666.1:g.41747946_41747947insTCCGGG | GRCh37 |
| NC_000004.10:g.41442703_41442704insTCCGGG | NCBI36 |
| NG_008243.1:g.8046_8047insACCCGG , LRG_513:g.8046_8047insACCCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.827_828insACCCGG MANE Select | ENSP00000226382.2:p.Gly276_Pro277insProGly | |
| ENST00000226382.3:c.827_828insACCCGG | ENSP00000226382.2:p.Gly276_Pro277insProGly | |
| NM_003924.3:c.827_828insACCCGG , LRG_513t1:c.827_828insACCCGG | NP_003915.2:p.Gly276_Pro277insProGly | |
| NM_003924.4:c.827_828insACCCGG MANE Select | NP_003915.2:p.Gly276_Pro277insProGly |