Linked Data
dbSNP Id:
rs2123472602
gnomAD v3:
21-45990511-C-CAGGGGAAGGACGGGGAGGGA
gnomAD v4:
21-45990511-C-CAGGGGAAGGACGGGGAGGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990511_45990512insAGGGGAAGGACGGGGAGGGA , CM000683.2:g.45990511_45990512insAGGGGAAGGACGGGGAGGGA | GRCh38 |
| NC_000021.8:g.47410425_47410426insAGGGGAAGGACGGGGAGGGA , CM000683.1:g.47410425_47410426insAGGGGAAGGACGGGGAGGGA | GRCh37 |
| NC_000021.7:g.46234853_46234854insAGGGGAAGGACGGGGAGGGA | NCBI36 |
| NG_008674.1:g.13763_13764insAGGGGAAGGACGGGGAGGGA , LRG_475:g.13763_13764insAGGGGAAGGACGGGGAGGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+89_1002+90insAGGGGAAGGACGGGGAGGGA MANE Select | ENSP00000355180.3:n.1002+89_1002+90insAGGGGAAGGACGGGGAGGGA | |
| ENST00000361866.7:c.1002+89_1002+90insAGGGGAAGGACGGGGAGGGA | ENSP00000355180.3:n.1002+89_1002+90insAGGGGAAGGACGGGGAGGGA | |
| ENST00000612273.1:c.1002+89_1002+90insAGGGGAAGGACGGGGAGGGA | ENSP00000483630.1:n.1002+89_1002+90insAGGGGAAGGACGGGGAGGGA | |
| NM_001848.2:c.1002+89_1002+90insAGGGGAAGGACGGGGAGGGA , LRG_475t1:c.1002+89_1002+90insAGGGGAAGGACGGGGAGGGA | NP_001839.2:n.1002+89_1002+90insAGGGGAAGGACGGGGAGGGA | |
| NM_001848.3:c.1002+89_1002+90insAGGGGAAGGACGGGGAGGGA MANE Select | NP_001839.2:n.1002+89_1002+90insAGGGGAAGGACGGGGAGGGA |