Linked Data
dbSNP Id:
rs770452069
ExAC:
11:5248072 C / CCTATTGGT
gnomAD v2:
11-5248072-C-CCTATTGGT
gnomAD v4:
11-5226842-C-CCTATTGGT
MyVariant Identifiers:
chr11:g.5248072_5248073insCTATTGGT (hg19)
chr11:g.5226842_5226843insCTATTGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226846_5226847insTGGTCTAT , CM000673.2:g.5226846_5226847insTGGTCTAT | GRCh38 |
| NC_000011.9:g.5248076_5248077insTGGTCTAT , CM000673.1:g.5248076_5248077insTGGTCTAT | GRCh37 |
| NC_000011.8:g.5204652_5204653insTGGTCTAT | NCBI36 |
| NG_000007.3:g.70773_70774insACCAATAG | |
| NG_059281.1:g.5229_5230insACCAATAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.93-44_93-43insACCAATAG | ENSP00000494175.1:n.93-44_93-43insACCAATAG | |
| ENST00000335295.4:c.93-44_93-43insACCAATAG MANE Select | ENSP00000333994.3:n.93-44_93-43insACCAATAG | |
| ENST00000380315.2:c.93-44_93-43insACCAATAG | ENSP00000369671.2:n.93-44_93-43insACCAATAG | |
| ENST00000485743.1:n.144-44_144-43insACCAATAG | ||
| ENST00000633227.1:c.77-44_77-43insACCAATAG | ENSP00000488004.1:n.77-44_77-43insACCAATAG | |
| NM_000518.4:c.93-44_93-43insACCAATAG | NP_000509.1:n.93-44_93-43insACCAATAG | |
| NM_000518.5:c.93-44_93-43insACCAATAG MANE Select | NP_000509.1:n.93-44_93-43insACCAATAG |