Linked Data
dbSNP Id:
rs1290897972
gnomAD v2:
21-47410481-C-CGGGGAGGGAT
gnomAD v3:
21-45990567-C-CGGGGAGGGAT
gnomAD v4:
21-45990567-C-CGGGGAGGGAT
MyVariant Identifiers:
chr21:g.47410481_47410482insGGGGAGGGAT (hg19)
chr21:g.45990567_45990568insGGGGAGGGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990572_45990581dup , CM000683.2:g.45990572_45990581dup | GRCh38 |
| NC_000021.8:g.47410486_47410495dup , CM000683.1:g.47410486_47410495dup | GRCh37 |
| NC_000021.7:g.46234914_46234923dup | NCBI36 |
| NG_008674.1:g.13824_13833dup , LRG_475:g.13824_13833dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+150_1002+159dup MANE Select | ENSP00000355180.3:n.1002+150_1002+159dup | |
| ENST00000361866.7:c.1002+150_1002+159dup | ENSP00000355180.3:n.1002+150_1002+159dup | |
| ENST00000612273.1:c.1002+150_1002+159dup | ENSP00000483630.1:n.1002+150_1002+159dup | |
| NM_001848.2:c.1002+150_1002+159dup , LRG_475t1:c.1002+150_1002+159dup | NP_001839.2:n.1002+150_1002+159dup | |
| NM_001848.3:c.1002+150_1002+159dup MANE Select | NP_001839.2:n.1002+150_1002+159dup |