Linked Data
dbSNP Id:
rs770883746
ExAC:
21:47410387 G / GGAC
gnomAD v4:
21-45990473-G-GGAC
MyVariant Identifiers:
chr21:g.47410387_47410388insGAC (hg19)
chr21:g.45990473_45990474insGAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990473_45990474insGAC , CM000683.2:g.45990473_45990474insGAC | GRCh38 |
| NC_000021.8:g.47410387_47410388insGAC , CM000683.1:g.47410387_47410388insGAC | GRCh37 |
| NC_000021.7:g.46234815_46234816insGAC | NCBI36 |
| NG_008674.1:g.13725_13726insGAC , LRG_475:g.13725_13726insGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+51_1002+52insGAC MANE Select | ENSP00000355180.3:n.1002+51_1002+52insGAC | |
| ENST00000361866.7:c.1002+51_1002+52insGAC | ENSP00000355180.3:n.1002+51_1002+52insGAC | |
| ENST00000612273.1:c.1002+51_1002+52insGAC | ENSP00000483630.1:n.1002+51_1002+52insGAC | |
| NM_001848.2:c.1002+51_1002+52insGAC , LRG_475t1:c.1002+51_1002+52insGAC | NP_001839.2:n.1002+51_1002+52insGAC | |
| NM_001848.3:c.1002+51_1002+52insGAC MANE Select | NP_001839.2:n.1002+51_1002+52insGAC |