Linked Data
gnomAD v3:
19-6710016-G-GGAGAGAGGGAGGGAGAGAGAGA
gnomAD v4:
19-6710016-G-GGAGAGAGGGAGGGAGAGAGAGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710025_6710026insAGGGAGAGAGAGAGAGAGAGGG , CM000681.2:g.6710025_6710026insAGGGAGAGAGAGAGAGAGAGGG | GRCh38 |
| NC_000019.9:g.6710036_6710037insAGGGAGAGAGAGAGAGAGAGGG , CM000681.1:g.6710036_6710037insAGGGAGAGAGAGAGAGAGAGGG | GRCh37 |
| NC_000019.8:g.6661036_6661037insAGGGAGAGAGAGAGAGAGAGGG | NCBI36 |
| NG_009557.1:g.15635_15636insTCTCTCTCTCCCTCCCTCTCTC , LRG_27:g.15635_15636insTCTCTCTCTCCCTCCCTCTCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-175_1564-174insTCTCTCTCTCCCTCCCTCTCTC | ENSP00000512083.1:n.1564-175_1564-174insTCTCTCTCTCCCTCCCTCTCT... | |
| ENST00000695654.1:c.811-175_811-174insTCTCTCTCTCCCTCCCTCTCTC | ENSP00000512085.1:n.811-175_811-174insTCTCTCTCTCCCTCCCTCTCTC | |
| ENST00000695655.1:c.592-139_592-138insTCTCTCTCTCCCTCCCTCTCTC | ENSP00000512086.1:n.592-139_592-138insTCTCTCTCTCCCTCCCTCTCTC | |
| ENST00000695692.1:n.1051-175_1051-174insTCTCTCTCTCCCTCCCTCTCTC | ||
| ENST00000245907.11:c.1687-175_1687-174insTCTCTCTCTCCCTCCCTCTCTC MANE Select | ENSP00000245907.4:n.1687-175_1687-174insTCTCTCTCTCCCTCCCTCTCT... | |
| ENST00000245907.10:c.1687-175_1687-174insTCTCTCTCTCCCTCCCTCTCTC | ENSP00000245907.4:n.1687-175_1687-174insTCTCTCTCTCCCTCCCTCTCT... | |
| ENST00000600763.1:n.320-175_320-174insTCTCTCTCTCCCTCCCTCTCTC | ||
| NM_000064.3:c.1687-175_1687-174insTCTCTCTCTCCCTCCCTCTCTC | NP_000055.2:n.1687-175_1687-174insTCTCTCTCTCCCTCCCTCTCTC | |
| NM_000064.4:c.1687-175_1687-174insTCTCTCTCTCCCTCCCTCTCTC MANE Select | NP_000055.2:n.1687-175_1687-174insTCTCTCTCTCCCTCCCTCTCTC |