Linked Data
gnomAD v2:
21-47410361-C-CAGTGTGAAGGTGACCA
gnomAD v4:
21-45990447-C-CAGTGTGAAGGTGACCA
MyVariant Identifiers:
chr21:g.47410361_47410362insAGTGTGAAGGTGACCA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990447_45990448insAGTGTGAAGGTGACCA , CM000683.2:g.45990447_45990448insAGTGTGAAGGTGACCA | GRCh38 |
| NC_000021.8:g.47410361_47410362insAGTGTGAAGGTGACCA , CM000683.1:g.47410361_47410362insAGTGTGAAGGTGACCA | GRCh37 |
| NC_000021.7:g.46234789_46234790insAGTGTGAAGGTGACCA | NCBI36 |
| NG_008674.1:g.13699_13700insAGTGTGAAGGTGACCA , LRG_475:g.13699_13700insAGTGTGAAGGTGACCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+25_1002+26insAGTGTGAAGGTGACCA MANE Select | ENSP00000355180.3:n.1002+25_1002+26insAGTGTGAAGGTGACCA | |
| ENST00000361866.7:c.1002+25_1002+26insAGTGTGAAGGTGACCA | ENSP00000355180.3:n.1002+25_1002+26insAGTGTGAAGGTGACCA | |
| ENST00000612273.1:c.1002+25_1002+26insAGTGTGAAGGTGACCA | ENSP00000483630.1:n.1002+25_1002+26insAGTGTGAAGGTGACCA | |
| NM_001848.2:c.1002+25_1002+26insAGTGTGAAGGTGACCA , LRG_475t1:c.1002+25_1002+26insAGTGTGAAGGTGACCA | NP_001839.2:n.1002+25_1002+26insAGTGTGAAGGTGACCA | |
| NM_001848.3:c.1002+25_1002+26insAGTGTGAAGGTGACCA MANE Select | NP_001839.2:n.1002+25_1002+26insAGTGTGAAGGTGACCA |