Linked Data
gnomAD v4:
2-43887300-A-AGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43887301_43887302insCTG , CM000664.2:g.43887301_43887302insCTG | GRCh38 |
| NC_000002.11:g.44114440_44114441insCTG , CM000664.1:g.44114440_44114441insCTG | GRCh37 |
| NC_000002.10:g.43967944_43967945insCTG | NCBI36 |
| NG_008247.1:g.113705_113706insAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2251_2252insAGC | ||
| ENST00000684454.1:n.9348_9349insAGC | ||
| ENST00000260665.12:c.*1299_*1300insAGC MANE Select | ENSP00000260665.7:n.*1299_*1300insAGC | |
| ENST00000260665.11:c.*1299_*1300insAGC | ENSP00000260665.7:n.*1299_*1300insAGC | |
| NM_133259.3:c.*1299_*1300insAGC | NP_573566.2:n.*1299_*1300insAGC | |
| XR_002958896.1:n.5666_5667insAGC | ||
| NM_133259.4:c.*1299_*1300insAGC MANE Select | NP_573566.2:n.*1299_*1300insAGC |