Linked Data
gnomAD v4:
15-74754819-C-CCTCTGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74754819_74754820insCTCTGA , CM000677.2:g.74754819_74754820insCTCTGA | GRCh38 |
| NC_000015.9:g.75047160_75047161insCTCTGA , CM000677.1:g.75047160_75047161insCTCTGA | GRCh37 |
| NC_000015.8:g.72834213_72834214insCTCTGA | NCBI36 |
| NG_008431.1:g.37278_37279insCTCTGA | |
| NG_008431.2:g.37278_37279insCTCTGA | |
| NG_061543.1:g.10975_10976insCTCTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1282_1283insCTCTGA MANE Select | ENSP00000342007.4:p.Phe427_Arg428insProLeu | |
| ENST00000343932.4:c.1282_1283insCTCTGA | ENSP00000342007.4:p.Phe427_Arg428insProLeu | |
| NM_000761.4:c.1282_1283insCTCTGA | NP_000752.2:p.Phe427_Arg428insProLeu | |
| NM_000761.5:c.1282_1283insCTCTGA MANE Select | NP_000752.2:p.Phe427_Arg428insProLeu |