Linked Data
ClinVar Variation Id:
2704287
ClinVar RCV Id:
RCV003524059
dbSNP Id:
rs747620478
gnomAD v2:
11-22646941-C-CGGCGGGCAA
gnomAD v3:
11-22625395-C-CGGCGGGCAA
gnomAD v4:
11-22625395-C-CGGCGGGCAA
MyVariant Identifiers:
chr11:g.22646941_22646942insGGCGGGCAA (hg19)
chr11:g.22625395_22625396insGGCGGGCAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625403_22625411dup , CM000673.2:g.22625403_22625411dup | GRCh38 |
| NC_000011.9:g.22646949_22646957dup , CM000673.1:g.22646949_22646957dup | GRCh37 |
| NC_000011.8:g.22603525_22603533dup | NCBI36 |
| NG_007425.1:g.5438_5446dup , LRG_527:g.5438_5446dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.407_415dup MANE Select | ENSP00000330875.3:p.Arg138_Arg139insLeuAlaArg | |
| ENST00000327470.4:c.407_415dup | ENSP00000330875.3:p.Arg138_Arg139insLeuAlaArg | |
| NM_022725.3:c.407_415dup , LRG_527t1:c.407_415dup | NP_073562.1:p.Arg138_Arg139insLeuAlaArg | |
| NM_022725.4:c.407_415dup MANE Select | NP_073562.1:p.Arg138_Arg139insLeuAlaArg |