Linked Data
gnomAD v3:
19-6710006-G-GGAGAGAGAGGGAGAGAGGGAGA
gnomAD v4:
19-6710006-G-GGAGAGAGAGGGAGAGAGGGAGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710025_6710026insAGAGAGAGAGAGGGAGAGAGGG , CM000681.2:g.6710025_6710026insAGAGAGAGAGAGGGAGAGAGGG | GRCh38 |
| NC_000019.9:g.6710036_6710037insAGAGAGAGAGAGGGAGAGAGGG , CM000681.1:g.6710036_6710037insAGAGAGAGAGAGGGAGAGAGGG | GRCh37 |
| NC_000019.8:g.6661036_6661037insAGAGAGAGAGAGGGAGAGAGGG | NCBI36 |
| NG_009557.1:g.15645_15646insTCTCCCTCTCTCCCTCTCTCTC , LRG_27:g.15645_15646insTCTCCCTCTCTCCCTCTCTCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-165_1564-164insTCTCCCTCTCTCCCTCTCTCTC | ENSP00000512083.1:n.1564-165_1564-164insTCTCCCTCTCTCCCTCTCTCT... | |
| ENST00000695654.1:c.811-165_811-164insTCTCCCTCTCTCCCTCTCTCTC | ENSP00000512085.1:n.811-165_811-164insTCTCCCTCTCTCCCTCTCTCTC | |
| ENST00000695655.1:c.592-129_592-128insTCTCCCTCTCTCCCTCTCTCTC | ENSP00000512086.1:n.592-129_592-128insTCTCCCTCTCTCCCTCTCTCTC | |
| ENST00000695692.1:n.1051-165_1051-164insTCTCCCTCTCTCCCTCTCTCTC | ||
| ENST00000245907.11:c.1687-165_1687-164insTCTCCCTCTCTCCCTCTCTCTC MANE Select | ENSP00000245907.4:n.1687-165_1687-164insTCTCCCTCTCTCCCTCTCTCT... | |
| ENST00000245907.10:c.1687-165_1687-164insTCTCCCTCTCTCCCTCTCTCTC | ENSP00000245907.4:n.1687-165_1687-164insTCTCCCTCTCTCCCTCTCTCT... | |
| ENST00000600763.1:n.320-165_320-164insTCTCCCTCTCTCCCTCTCTCTC | ||
| NM_000064.3:c.1687-165_1687-164insTCTCCCTCTCTCCCTCTCTCTC | NP_000055.2:n.1687-165_1687-164insTCTCCCTCTCTCCCTCTCTCTC | |
| NM_000064.4:c.1687-165_1687-164insTCTCCCTCTCTCCCTCTCTCTC MANE Select | NP_000055.2:n.1687-165_1687-164insTCTCCCTCTCTCCCTCTCTCTC |