Linked Data
gnomAD v3:
X-149490724-C-CCTTTCTGTCTCCCTCACA
gnomAD v4:
X-149490724-C-CCTTTCTGTCTCCCTCACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149490724_149490725insCTTTCTGTCTCCCTCACA , CM000685.2:g.149490724_149490725insCTTTCTGTCTCCCTCACA | GRCh38 |
| NC_000023.10:g.148572255_148572256insCTTTCTGTCTCCCTCACA , CM000685.1:g.148572255_148572256insCTTTCTGTCTCCCTCACA | GRCh37 |
| NC_000023.9:g.148380160_148380161insCTTTCTGTCTCCCTCACA | NCBI36 |
| NG_011900.3:g.19610_19611insTGTGAGGGAGACAGAAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.880-285_880-284insTGTGAGGGAGACAGAAAG MANE Select | ENSP00000339801.6:n.880-285_880-284insTGTGAGGGAGACAGAAAG | |
| ENST00000651111.1:c.247-285_247-284insTGTGAGGGAGACAGAAAG | ENSP00000498395.1:n.247-285_247-284insTGTGAGGGAGACAGAAAG | |
| ENST00000340855.10:c.880-285_880-284insTGTGAGGGAGACAGAAAG | ENSP00000339801.6:n.880-285_880-284insTGTGAGGGAGACAGAAAG | |
| ENST00000370441.8:c.880-285_880-284insTGTGAGGGAGACAGAAAG | ENSP00000359470.4:n.880-285_880-284insTGTGAGGGAGACAGAAAG | |
| ENST00000422081.6:c.247-285_247-284insTGTGAGGGAGACAGAAAG | ENSP00000477056.1:n.247-285_247-284insTGTGAGGGAGACAGAAAG | |
| ENST00000441880.1:n.114-3627_114-3626insTGTGAGGGAGACAGAAAG | ||
| ENST00000464251.5:c.806-285_806-284insTGTGAGGGAGACAGAAAG | ENSP00000428980.1:n.806-285_806-284insTGTGAGGGAGACAGAAAG | |
| ENST00000466323.5:c.*71-285_*71-284insTGTGAGGGAGACAGAAAG | ENSP00000418264.1:n.*71-285_*71-284insTGTGAGGGAGACAGAAAG | |
| ENST00000490775.5:n.665-285_665-284insTGTGAGGGAGACAGAAAG | ||
| NM_000202.6:c.880-285_880-284insTGTGAGGGAGACAGAAAG | NP_000193.1:n.880-285_880-284insTGTGAGGGAGACAGAAAG | |
| NM_001166550.2:c.610-285_610-284insTGTGAGGGAGACAGAAAG | NP_001160022.1:n.610-285_610-284insTGTGAGGGAGACAGAAAG | |
| NM_006123.4:c.880-285_880-284insTGTGAGGGAGACAGAAAG | NP_006114.1:n.880-285_880-284insTGTGAGGGAGACAGAAAG | |
| NR_104128.1:n.1227-285_1227-284insTGTGAGGGAGACAGAAAG | ||
| NM_000202.7:c.880-285_880-284insTGTGAGGGAGACAGAAAG | NP_000193.1:n.880-285_880-284insTGTGAGGGAGACAGAAAG | |
| NM_001166550.3:c.610-285_610-284insTGTGAGGGAGACAGAAAG | NP_001160022.1:n.610-285_610-284insTGTGAGGGAGACAGAAAG | |
| NM_000202.8:c.880-285_880-284insTGTGAGGGAGACAGAAAG MANE Select | NP_000193.1:n.880-285_880-284insTGTGAGGGAGACAGAAAG | |
| NM_001166550.4:c.610-285_610-284insTGTGAGGGAGACAGAAAG | NP_001160022.1:n.610-285_610-284insTGTGAGGGAGACAGAAAG | |
| NM_006123.5:c.880-285_880-284insTGTGAGGGAGACAGAAAG | NP_006114.1:n.880-285_880-284insTGTGAGGGAGACAGAAAG | |
| NR_104128.2:n.1179-285_1179-284insTGTGAGGGAGACAGAAAG |