Linked Data
gnomAD v4:
1-204190425-C-CCCCCCCCCCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190426_204190427insCCCCCCCCTGC , CM000663.2:g.204190426_204190427insCCCCCCCCTGC | GRCh38 |
| NC_000001.10:g.204159554_204159555insCCCCCCCCTGC , CM000663.1:g.204159554_204159555insCCCCCCCCTGC | GRCh37 |
| NC_000001.9:g.202426177_202426178insCCCCCCCCTGC | NCBI36 |
| NG_032151.1:g.11066_11067insCAGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*58_*59insCAGGGGGGGGG MANE Select | ENSP00000356162.4:n.*58_*59insCAGGGGGGGGG | |
| ENST00000367194.4:c.*58_*59insCAGGGGGGGGG | ENSP00000356162.4:n.*58_*59insCAGGGGGGGGG | |
| NM_002256.3:c.*58_*59insCAGGGGGGGGG | NP_002247.3:n.*58_*59insCAGGGGGGGGG | |
| XM_011509525.1:c.*58_*59insCAGGGGGGGGG | XP_011507827.1:n.*58_*59insCAGGGGGGGGG | |
| NM_002256.4:c.*58_*59insCAGGGGGGGGG MANE Select | NP_002247.3:n.*58_*59insCAGGGGGGGGG |