Linked Data
gnomAD v4:
1-204190430-C-CCCCCCCCCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190431_204190432insCCCCCCCCTC , CM000663.2:g.204190431_204190432insCCCCCCCCTC | GRCh38 |
| NC_000001.10:g.204159559_204159560insCCCCCCCCTC , CM000663.1:g.204159559_204159560insCCCCCCCCTC | GRCh37 |
| NC_000001.9:g.202426182_202426183insCCCCCCCCTC | NCBI36 |
| NG_032151.1:g.11061_11062insAGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*53_*54insAGGGGGGGGG MANE Select | ENSP00000356162.4:n.*53_*54insAGGGGGGGGG | |
| ENST00000367194.4:c.*53_*54insAGGGGGGGGG | ENSP00000356162.4:n.*53_*54insAGGGGGGGGG | |
| NM_002256.3:c.*53_*54insAGGGGGGGGG | NP_002247.3:n.*53_*54insAGGGGGGGGG | |
| XM_011509525.1:c.*53_*54insAGGGGGGGGG | XP_011507827.1:n.*53_*54insAGGGGGGGGG | |
| NM_002256.4:c.*53_*54insAGGGGGGGGG MANE Select | NP_002247.3:n.*53_*54insAGGGGGGGGG |