Linked Data
dbSNP Id:
rs1359305203
MyVariant Identifiers:
chr22:g.43559126_43559127insCTT (hg19)
chr22:g.43163120_43163121insCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43163122_43163124dup , CM000684.2:g.43163122_43163124dup | GRCh38 |
| NC_000022.10:g.43559128_43559130dup , CM000684.1:g.43559128_43559130dup | GRCh37 |
| NC_000022.9:g.41889072_41889074dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337554.8:c.*131_*133dup MANE Select | ENSP00000338004.3:n.*131_*133dup | |
| ENST00000329563.8:c.*131_*133dup | ENSP00000328973.4:n.*131_*133dup | |
| ENST00000337554.7:c.*131_*133dup | ENSP00000338004.3:n.*131_*133dup | |
| ENST00000396265.4:c.*131_*133dup | ENSP00000379563.4:n.*131_*133dup | |
| ENST00000583777.5:c.*131_*133dup | ENSP00000463495.1:n.*131_*133dup | |
| NM_000714.5:c.*131_*133dup | NP_000705.2:n.*131_*133dup | |
| NM_001256530.1:c.*131_*133dup | NP_001243459.1:n.*131_*133dup | |
| NM_001256531.1:c.*131_*133dup | NP_001243460.1:n.*131_*133dup | |
| NR_046308.1:n.550_552dup | ||
| NM_000714.6:c.*131_*133dup MANE Select | NP_000705.2:n.*131_*133dup | |
| NR_046308.2:n.505_507dup |