Linked Data
dbSNP Id:
rs1967869228
gnomAD v3:
19-6709983-G-GAGGGAGAT
gnomAD v4:
19-6709983-G-GAGGGAGAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709985_6709986insGGAGATAG , CM000681.2:g.6709985_6709986insGGAGATAG | GRCh38 |
| NC_000019.9:g.6709996_6709997insGGAGATAG , CM000681.1:g.6709996_6709997insGGAGATAG | GRCh37 |
| NC_000019.8:g.6660996_6660997insGGAGATAG | NCBI36 |
| NG_009557.1:g.15668_15669insATCTCCCT , LRG_27:g.15668_15669insATCTCCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-142_1564-141insATCTCCCT | ENSP00000512083.1:n.1564-142_1564-141insATCTCCCT | |
| ENST00000695654.1:c.811-142_811-141insATCTCCCT | ENSP00000512085.1:n.811-142_811-141insATCTCCCT | |
| ENST00000695655.1:c.592-106_592-105insATCTCCCT | ENSP00000512086.1:n.592-106_592-105insATCTCCCT | |
| ENST00000695692.1:n.1051-142_1051-141insATCTCCCT | ||
| ENST00000245907.11:c.1687-142_1687-141insATCTCCCT MANE Select | ENSP00000245907.4:n.1687-142_1687-141insATCTCCCT | |
| ENST00000245907.10:c.1687-142_1687-141insATCTCCCT | ENSP00000245907.4:n.1687-142_1687-141insATCTCCCT | |
| ENST00000600763.1:n.320-142_320-141insATCTCCCT | ||
| NM_000064.3:c.1687-142_1687-141insATCTCCCT | NP_000055.2:n.1687-142_1687-141insATCTCCCT | |
| NM_000064.4:c.1687-142_1687-141insATCTCCCT MANE Select | NP_000055.2:n.1687-142_1687-141insATCTCCCT |