Linked Data
gnomAD v4:
1-204190430-C-CCCCAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190431_204190432insCCAGC , CM000663.2:g.204190431_204190432insCCAGC | GRCh38 |
| NC_000001.10:g.204159559_204159560insCCAGC , CM000663.1:g.204159559_204159560insCCAGC | GRCh37 |
| NC_000001.9:g.202426182_202426183insCCAGC | NCBI36 |
| NG_032151.1:g.11061_11062insCTGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*53_*54insCTGGG MANE Select | ENSP00000356162.4:n.*53_*54insCTGGG | |
| ENST00000367194.4:c.*53_*54insCTGGG | ENSP00000356162.4:n.*53_*54insCTGGG | |
| NM_002256.3:c.*53_*54insCTGGG | NP_002247.3:n.*53_*54insCTGGG | |
| XM_011509525.1:c.*53_*54insCTGGG | XP_011507827.1:n.*53_*54insCTGGG | |
| NM_002256.4:c.*53_*54insCTGGG MANE Select | NP_002247.3:n.*53_*54insCTGGG |