Linked Data
gnomAD v2:
21-47410345-G-GGA
gnomAD v4:
21-45990431-G-GGA
MyVariant Identifiers:
chr21:g.47410347_47410353delinsAGGGAGATA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990432_45990433insAG , CM000683.2:g.45990432_45990433insAG | GRCh38 |
| NC_000021.8:g.47410346_47410347insAG , CM000683.1:g.47410346_47410347insAG | GRCh37 |
| NC_000021.7:g.46234774_46234775insAG | NCBI36 |
| NG_008674.1:g.13684_13685insAG , LRG_475:g.13684_13685insAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+10_1002+11insAG MANE Select | ENSP00000355180.3:n.1002+10_1002+11insAG | |
| ENST00000361866.7:c.1002+10_1002+11insAG | ENSP00000355180.3:n.1002+10_1002+11insAG | |
| ENST00000612273.1:c.1002+10_1002+11insAG | ENSP00000483630.1:n.1002+10_1002+11insAG | |
| NM_001848.2:c.1002+10_1002+11insAG , LRG_475t1:c.1002+10_1002+11insAG | NP_001839.2:n.1002+10_1002+11insAG | |
| NM_001848.3:c.1002+10_1002+11insAG MANE Select | NP_001839.2:n.1002+10_1002+11insAG |