Linked Data
dbSNP Id:
rs1568224497
gnomAD v3:
19-6710024-G-GGAGGGAGAGAGAGGGAGAGAGT
gnomAD v4:
19-6710024-G-GGAGGGAGAGAGAGGGAGAGAGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710025_6710026insAGGGAGAGAGAGGGAGAGAGTG , CM000681.2:g.6710025_6710026insAGGGAGAGAGAGGGAGAGAGTG | GRCh38 |
| NC_000019.9:g.6710036_6710037insAGGGAGAGAGAGGGAGAGAGTG , CM000681.1:g.6710036_6710037insAGGGAGAGAGAGGGAGAGAGTG | GRCh37 |
| NC_000019.8:g.6661036_6661037insAGGGAGAGAGAGGGAGAGAGTG | NCBI36 |
| NG_009557.1:g.15627_15628insACTCTCTCCCTCTCTCTCCCTC , LRG_27:g.15627_15628insACTCTCTCCCTCTCTCTCCCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-183_1564-182insACTCTCTCCCTCTCTCTCCCTC | ENSP00000512083.1:n.1564-183_1564-182insACTCTCTCCCTCTCTCTCCCT... | |
| ENST00000695654.1:c.811-183_811-182insACTCTCTCCCTCTCTCTCCCTC | ENSP00000512085.1:n.811-183_811-182insACTCTCTCCCTCTCTCTCCCTC | |
| ENST00000695655.1:c.592-147_592-146insACTCTCTCCCTCTCTCTCCCTC | ENSP00000512086.1:n.592-147_592-146insACTCTCTCCCTCTCTCTCCCTC | |
| ENST00000695692.1:n.1051-183_1051-182insACTCTCTCCCTCTCTCTCCCTC | ||
| ENST00000245907.11:c.1687-183_1687-182insACTCTCTCCCTCTCTCTCCCTC MANE Select | ENSP00000245907.4:n.1687-183_1687-182insACTCTCTCCCTCTCTCTCCCT... | |
| ENST00000245907.10:c.1687-183_1687-182insACTCTCTCCCTCTCTCTCCCTC | ENSP00000245907.4:n.1687-183_1687-182insACTCTCTCCCTCTCTCTCCCT... | |
| ENST00000600763.1:n.320-183_320-182insACTCTCTCCCTCTCTCTCCCTC | ||
| NM_000064.3:c.1687-183_1687-182insACTCTCTCCCTCTCTCTCCCTC | NP_000055.2:n.1687-183_1687-182insACTCTCTCCCTCTCTCTCCCTC | |
| NM_000064.4:c.1687-183_1687-182insACTCTCTCCCTCTCTCTCCCTC MANE Select | NP_000055.2:n.1687-183_1687-182insACTCTCTCCCTCTCTCTCCCTC |