Linked Data
ClinVar Variation Id:
1403739
ClinVar RCV Id:
RCV001909205
dbSNP Id:
rs1206863775
gnomAD v4:
X-67545316-T-TGCTGCAGCAGCAGCAGCAGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67545318_67545319insTGCAGCAGCAGCAGCAGCAGC , CM000685.2:g.67545318_67545319insTGCAGCAGCAGCAGCAGCAGC | GRCh38 |
| NC_000023.10:g.66765160_66765161insTGCAGCAGCAGCAGCAGCAGC , CM000685.1:g.66765160_66765161insTGCAGCAGCAGCAGCAGCAGC | GRCh37 |
| NC_000023.9:g.66681885_66681886insTGCAGCAGCAGCAGCAGCAGC | NCBI36 |
| NG_009014.2:g.6287_6288insTGCAGCAGCAGCAGCAGCAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.172_173insTGCAGCAGCAGCAGCAGCAGC | ENSP00000379358.4:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln | |
| ENST00000374690.9:c.172_173insTGCAGCAGCAGCAGCAGCAGC MANE Select | ENSP00000363822.3:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln | |
| ENST00000396044.8:c.172_173insTGCAGCAGCAGCAGCAGCAGC | ENSP00000379359.3:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln | |
| ENST00000612452.5:c.172_173insTGCAGCAGCAGCAGCAGCAGC | ENSP00000484033.2:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln | |
| ENST00000374690.7:c.172_173insTGCAGCAGCAGCAGCAGCAGC | ENSP00000363822.3:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln | |
| ENST00000396044.7:c.172_173insTGCAGCAGCAGCAGCAGCAGC | ENSP00000379359.3:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln | |
| ENST00000504326.5:c.172_173insTGCAGCAGCAGCAGCAGCAGC | ENSP00000421155.1:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln | |
| ENST00000513847.5:n.499_500insTGCAGCAGCAGCAGCAGCAGC | ||
| ENST00000514029.5:c.172_173insTGCAGCAGCAGCAGCAGCAGC | ENSP00000425199.1:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln | |
| ENST00000612010.4:c.172_173insTGCAGCAGCAGCAGCAGCAGC | ENSP00000482407.1:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln | |
| ENST00000612452.4:c.-399_-398insTGCAGCAGCAGCAGCAGCAGC | ENSP00000484033.1:n.-399_-398insTGCAGCAGCAGCAGCAGCAGC | |
| ENST00000613054.2:c.172_173insTGCAGCAGCAGCAGCAGCAGC | ENSP00000479013.1:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln | |
| NM_000044.3:c.172_173insTGCAGCAGCAGCAGCAGCAGC | NP_000035.2:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln | |
| NM_000044.4:c.172_173insTGCAGCAGCAGCAGCAGCAGC | NP_000035.2:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln | |
| NM_001011645.3:c.-1612_-1611insTGCAGCAGCAGCAGCAGCAGC | NP_001011645.1:n.-1612_-1611insTGCAGCAGCAGCAGCAGCAGC | |
| NM_001348061.1:c.172_173insTGCAGCAGCAGCAGCAGCAGC | NP_001334990.1:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln | |
| NM_001348063.1:c.172_173insTGCAGCAGCAGCAGCAGCAGC | NP_001334992.1:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln | |
| NM_001348064.1:c.172_173insTGCAGCAGCAGCAGCAGCAGC | NP_001334993.1:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln | |
| NM_000044.6:c.172_173insTGCAGCAGCAGCAGCAGCAGC MANE Select | NP_000035.2:p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln |