Linked Data
gnomAD v4:
4-55346225-G-GTCCCCGCCCCGCGCCGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55346227_55346228insCCCGCCCCGCGCCGCATC , CM000666.2:g.55346227_55346228insCCCGCCCCGCGCCGCATC | GRCh38 |
| NC_000004.11:g.56212394_56212395insCCCGCCCCGCGCCGCATC , CM000666.1:g.56212394_56212395insCCCGCCCCGCGCCGCATC | GRCh37 |
| NC_000004.10:g.55907151_55907152insCCCGCCCCGCGCCGCATC | NCBI36 |
| NG_028230.1:g.5007_5008insCCCGCCCCGCGCCGCATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679836.1:c.-110_-109insCCCGCCCCGCGCCGCATC | ENSP00000506601.1:n.-110_-109insCCCGCCCCGCGCCGCATC | |
| ENST00000264228.8:c.-110_-109insCCCGCCCCGCGCCGCATC | ENSP00000264228.4:n.-110_-109insCCCGCCCCGCGCCGCATC | |
| NM_024592.4:c.-110_-109insCCCGCCCCGCGCCGCATC | NP_078868.1:n.-110_-109insCCCGCCCCGCGCCGCATC |