Linked Data
dbSNP Id:
rs1463287330
gnomAD v3:
X-19358842-C-CATGTTTCCAACCCCATATT
gnomAD v4:
X-19358842-C-CATGTTTCCAACCCCATATT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19358849_19358850insCAACCCCATATTATGTTTC , CM000685.2:g.19358849_19358850insCAACCCCATATTATGTTTC | GRCh38 |
| NC_000023.10:g.19376967_19376968insCAACCCCATATTATGTTTC , CM000685.1:g.19376967_19376968insCAACCCCATATTATGTTTC | GRCh37 |
| NC_000023.9:g.19286888_19286889insCAACCCCATATTATGTTTC | NCBI36 |
| NG_016781.1:g.19957_19958insCAACCCCATATTATGTTTC | |
| NG_021184.1:g.161419_161420insAATATGGGGTTGGAAACAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.921-67_921-66insCAACCCCATATTATGTTTC | ENSP00000348062.6:n.921-67_921-66insCAACC... | |
| ENST00000379805.4:c.*592-67_*592-66insCAACCCCATATTATGTTTC | ENSP00000369133.3:n.*592-67_*592-66insCAA... | |
| ENST00000417819.6:c.984-67_984-66insCAACCCCATATTATGTTTC | ENSP00000404616.2:n.984-67_984-66insCAACC... | |
| ENST00000423505.6:c.1014-67_1014-66insCAACCCCATATTATGTTTC | ENSP00000406473.2:n.1014-67_1014-66insCAA... | |
| ENST00000481733.2:n.695-67_695-66insCAACCCCATATTATGTTTC | ||
| ENST00000696704.1:c.*232-67_*232-66insCAACCCCATATTATGTTTC | ENSP00000512823.1:n.*232-67_*232-66insCAA... | |
| ENST00000696705.1:c.*355-67_*355-66insCAACCCCATATTATGTTTC | ENSP00000512824.1:n.*355-67_*355-66insCAA... | |
| ENST00000422285.7:c.900-67_900-66insCAACCCCATATTATGTTTC MANE Select | ENSP00000394382.2:n.900-67_900-66insCAACC... | |
| ENST00000379804.1:c.57-67_57-66insCAACCCCATATTATGTTTC | ENSP00000369132.1:n.57-67_57-66insCAACCCC... | |
| ENST00000379806.9:c.1014-67_1014-66insCAACCCCATATTATGTTTC | ENSP00000369134.5:n.1014-67_1014-66insCAA... | |
| ENST00000422285.6:c.900-67_900-66insCAACCCCATATTATGTTTC | ENSP00000394382.2:n.900-67_900-66insCAACC... | |
| ENST00000478795.1:n.339-67_339-66insCAACCCCATATTATGTTTC | ||
| ENST00000481733.1:n.328-67_328-66insCAACCCCATATTATGTTTC | ||
| ENST00000540249.5:c.807-67_807-66insCAACCCCATATTATGTTTC | ENSP00000440761.1:n.807-67_807-66insCAACC... | |
| ENST00000545074.5:c.921-67_921-66insCAACCCCATATTATGTTTC | ENSP00000438550.1:n.921-67_921-66insCAACC... | |
| NM_000284.3:c.900-67_900-66insCAACCCCATATTATGTTTC | NP_000275.1:n.900-67_900-66insCAACCCCATAT... | |
| NM_001173454.1:c.1014-67_1014-66insCAACCCCATATTATGTTTC | NP_001166925.1:n.1014-67_1014-66insCAACCC... | |
| NM_001173455.1:c.921-67_921-66insCAACCCCATATTATGTTTC | NP_001166926.1:n.921-67_921-66insCAACCCCA... | |
| NM_001173456.1:c.807-67_807-66insCAACCCCATATTATGTTTC | NP_001166927.1:n.807-67_807-66insCAACCCCA... | |
| XM_011545531.1:c.1035-67_1035-66insCAACCCCATATTATGTTTC | XP_011543833.1:n.1035-67_1035-66insCAACCC... | |
| XM_011545532.1:c.942-67_942-66insCAACCCCATATTATGTTTC | XP_011543834.1:n.942-67_942-66insCAACCCCA... | |
| XM_017029574.2:c.921-67_921-66insCAACCCCATATTATGTTTC | XP_016885063.1:n.921-67_921-66insCAACCCCA... | |
| NM_000284.4:c.900-67_900-66insCAACCCCATATTATGTTTC MANE Select | NP_000275.1:n.900-67_900-66insCAACCCCATAT... | |
| NM_001173454.2:c.1014-67_1014-66insCAACCCCATATTATGTTTC | NP_001166925.1:n.1014-67_1014-66insCAACCC... | |
| NM_001173455.2:c.921-67_921-66insCAACCCCATATTATGTTTC | NP_001166926.1:n.921-67_921-66insCAACCCCA... | |
| NM_001173456.2:c.807-67_807-66insCAACCCCATATTATGTTTC | NP_001166927.1:n.807-67_807-66insCAACCCCA... |