Linked Data
gnomAD v2:
21-47410353-A-AGTGTGAAGGTGACCAGG
gnomAD v4:
21-45990439-A-AGTGTGAAGGTGACCAGG
MyVariant Identifiers:
chr21:g.47410353_47410354insGTGTGAAGGTGACCAGG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990440_45990441insTGTGAAGGTGACCAGGG , CM000683.2:g.45990440_45990441insTGTGAAGGTGACCAGGG | GRCh38 |
| NC_000021.8:g.47410354_47410355insTGTGAAGGTGACCAGGG , CM000683.1:g.47410354_47410355insTGTGAAGGTGACCAGGG | GRCh37 |
| NC_000021.7:g.46234782_46234783insTGTGAAGGTGACCAGGG | NCBI36 |
| NG_008674.1:g.13692_13693insTGTGAAGGTGACCAGGG , LRG_475:g.13692_13693insTGTGAAGGTGACCAGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+18_1002+19insTGTGAAGGTGACCAGGG MANE Select | ENSP00000355180.3:n.1002+18_1002+19insTGTGAAGGTGACCAGGG | |
| ENST00000361866.7:c.1002+18_1002+19insTGTGAAGGTGACCAGGG | ENSP00000355180.3:n.1002+18_1002+19insTGTGAAGGTGACCAGGG | |
| ENST00000612273.1:c.1002+18_1002+19insTGTGAAGGTGACCAGGG | ENSP00000483630.1:n.1002+18_1002+19insTGTGAAGGTGACCAGGG | |
| NM_001848.2:c.1002+18_1002+19insTGTGAAGGTGACCAGGG , LRG_475t1:c.1002+18_1002+19insTGTGAAGGTGACCAGGG | NP_001839.2:n.1002+18_1002+19insTGTGAAGGTGACCAGGG | |
| NM_001848.3:c.1002+18_1002+19insTGTGAAGGTGACCAGGG MANE Select | NP_001839.2:n.1002+18_1002+19insTGTGAAGGTGACCAGGG |