Linked Data
ClinVar Variation Id:
1583747
ClinVar RCV Id:
RCV002099972
dbSNP Id:
rs781015056
ExAC:
11:5248124 G / GCATTCTAT
gnomAD v2:
11-5248124-G-GCATTCTAT
gnomAD v4:
11-5226894-G-GCATTCTAT
MyVariant Identifiers:
chr11:g.5248124_5248125insCATTCTAT (hg19)
chr11:g.5226894_5226895insCATTCTAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226894_5226895insCATTCTAT , CM000673.2:g.5226894_5226895insCATTCTAT | GRCh38 |
| NC_000011.9:g.5248124_5248125insCATTCTAT , CM000673.1:g.5248124_5248125insCATTCTAT | GRCh37 |
| NC_000011.8:g.5204700_5204701insCATTCTAT | NCBI36 |
| NG_000007.3:g.70721_70722insATAGAATG | |
| NG_059281.1:g.5177_5178insATAGAATG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.92+35_92+36insATAGAATG | ENSP00000494175.1:n.92+35_92+36insATAGAAT... | |
| ENST00000335295.4:c.92+35_92+36insATAGAATG MANE Select | ENSP00000333994.3:n.92+35_92+36insATAGAAT... | |
| ENST00000380315.2:c.92+35_92+36insATAGAATG | ENSP00000369671.2:n.92+35_92+36insATAGAAT... | |
| ENST00000485743.1:n.143+35_143+36insATAGAATG | ||
| ENST00000633227.1:c.76+51_76+52insATAGAATG | ENSP00000488004.1:n.76+51_76+52insATAGAAT... | |
| NM_000518.4:c.92+35_92+36insATAGAATG | NP_000509.1:n.92+35_92+36insATAGAATG | |
| NM_000518.5:c.92+35_92+36insATAGAATG MANE Select | NP_000509.1:n.92+35_92+36insATAGAATG |