Linked Data
gnomAD v4:
1-204190430-C-CCCCCCCCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190431_204190432insCCCCCCCGC , CM000663.2:g.204190431_204190432insCCCCCCCGC | GRCh38 |
| NC_000001.10:g.204159559_204159560insCCCCCCCGC , CM000663.1:g.204159559_204159560insCCCCCCCGC | GRCh37 |
| NC_000001.9:g.202426182_202426183insCCCCCCCGC | NCBI36 |
| NG_032151.1:g.11061_11062insCGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*53_*54insCGGGGGGGG MANE Select | ENSP00000356162.4:n.*53_*54insCGGGGGGGG | |
| ENST00000367194.4:c.*53_*54insCGGGGGGGG | ENSP00000356162.4:n.*53_*54insCGGGGGGGG | |
| NM_002256.3:c.*53_*54insCGGGGGGGG | NP_002247.3:n.*53_*54insCGGGGGGGG | |
| XM_011509525.1:c.*53_*54insCGGGGGGGG | XP_011507827.1:n.*53_*54insCGGGGGGGG | |
| NM_002256.4:c.*53_*54insCGGGGGGGG MANE Select | NP_002247.3:n.*53_*54insCGGGGGGGG |