Linked Data
gnomAD v3:
19-6710009-G-GAGAGAGGGAGAGAGGGAGAGAA
gnomAD v4:
19-6710009-G-GAGAGAGGGAGAGAGGGAGAGAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710025_6710026insAGAGAAAGAGAGGGAGAGAGGG , CM000681.2:g.6710025_6710026insAGAGAAAGAGAGGGAGAGAGGG | GRCh38 |
| NC_000019.9:g.6710036_6710037insAGAGAAAGAGAGGGAGAGAGGG , CM000681.1:g.6710036_6710037insAGAGAAAGAGAGGGAGAGAGGG | GRCh37 |
| NC_000019.8:g.6661036_6661037insAGAGAAAGAGAGGGAGAGAGGG | NCBI36 |
| NG_009557.1:g.15642_15643insTTCTCTCCCTCTCTCCCTCTCT , LRG_27:g.15642_15643insTTCTCTCCCTCTCTCCCTCTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-168_1564-167insTTCTCTCCCTCTCTCCCTCTCT | ENSP00000512083.1:n.1564-168_1564-167insTTCTCTCCCTCTCTCCCTCTC... | |
| ENST00000695654.1:c.811-168_811-167insTTCTCTCCCTCTCTCCCTCTCT | ENSP00000512085.1:n.811-168_811-167insTTCTCTCCCTCTCTCCCTCTCT | |
| ENST00000695655.1:c.592-132_592-131insTTCTCTCCCTCTCTCCCTCTCT | ENSP00000512086.1:n.592-132_592-131insTTCTCTCCCTCTCTCCCTCTCT | |
| ENST00000695692.1:n.1051-168_1051-167insTTCTCTCCCTCTCTCCCTCTCT | ||
| ENST00000245907.11:c.1687-168_1687-167insTTCTCTCCCTCTCTCCCTCTCT MANE Select | ENSP00000245907.4:n.1687-168_1687-167insTTCTCTCCCTCTCTCCCTCTC... | |
| ENST00000245907.10:c.1687-168_1687-167insTTCTCTCCCTCTCTCCCTCTCT | ENSP00000245907.4:n.1687-168_1687-167insTTCTCTCCCTCTCTCCCTCTC... | |
| ENST00000600763.1:n.320-168_320-167insTTCTCTCCCTCTCTCCCTCTCT | ||
| NM_000064.3:c.1687-168_1687-167insTTCTCTCCCTCTCTCCCTCTCT | NP_000055.2:n.1687-168_1687-167insTTCTCTCCCTCTCTCCCTCTCT | |
| NM_000064.4:c.1687-168_1687-167insTTCTCTCCCTCTCTCCCTCTCT MANE Select | NP_000055.2:n.1687-168_1687-167insTTCTCTCCCTCTCTCCCTCTCT |