Linked Data
dbSNP Id:
rs1491090588
gnomAD v2:
19-6710001-A-AG
gnomAD v3:
19-6709990-A-AG
gnomAD v4:
19-6709990-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709990_6709991insG , CM000681.2:g.6709990_6709991insG | GRCh38 |
| NC_000019.9:g.6710001_6710002insG , CM000681.1:g.6710001_6710002insG | GRCh37 |
| NC_000019.8:g.6661001_6661002insG | NCBI36 |
| NG_009557.1:g.15661_15662insC , LRG_27:g.15661_15662insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-149_1564-148insC | ENSP00000512083.1:n.1564-149_1564-148insC | |
| ENST00000695654.1:c.811-149_811-148insC | ENSP00000512085.1:n.811-149_811-148insC | |
| ENST00000695655.1:c.592-113_592-112insC | ENSP00000512086.1:n.592-113_592-112insC | |
| ENST00000695692.1:n.1051-149_1051-148insC | ||
| ENST00000245907.11:c.1687-149_1687-148insC MANE Select | ENSP00000245907.4:n.1687-149_1687-148insC | |
| ENST00000245907.10:c.1687-149_1687-148insC | ENSP00000245907.4:n.1687-149_1687-148insC | |
| ENST00000600763.1:n.320-149_320-148insC | ||
| NM_000064.3:c.1687-149_1687-148insC | NP_000055.2:n.1687-149_1687-148insC | |
| NM_000064.4:c.1687-149_1687-148insC MANE Select | NP_000055.2:n.1687-149_1687-148insC |