Linked Data
ClinVar Variation Id:
195866
ClinVar RCV Id:
RCV000176540
dbSNP Id:
rs797044690
MyVariant Identifiers:
chrX:g.153587640_153587648delinsGCCA (hg19)
chrX:g.154359272_154359280delinsGCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154359272_154359280delinsGCCA , CM000685.2:g.154359272_154359280delinsGCCA | GRCh38 |
| NC_000023.10:g.153587640_153587648delinsGCCA , CM000685.1:g.153587640_153587648delinsGCCA | GRCh37 |
| NC_000023.9:g.153240834_153240842delinsGCCA | NCBI36 |
| NG_011506.1:g.20359_20367delinsTGGC | |
| NG_011506.2:g.20359_20367delinsTGGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360319.9:c.4269_4277delinsTGGC | ENSP00000353467.4:p.Leu1424GlyfsTer19 | |
| ENST00000369850.10:c.4269_4277delinsTGGC MANE Select | ENSP00000358866.3:p.Leu1424GlyfsTer19 | |
| ENST00000369856.8:c.4188_4196delinsTGGC | ENSP00000358872.4:p.Leu1397GlyfsTer19 | |
| ENST00000422373.6:c.3160+2075_3160+2083delinsTGGC | ENSP00000416926.2:n.3160+2075_3160+2083de... | |
| ENST00000610817.5:c.4326_4334delinsTGGC | ENSP00000480593.2:n.4326_4334delinsTGGC | |
| ENST00000673639.2:c.279+6156_279+6164delinsTGGC | ||
| ENST00000676696.1:c.4548_4556delinsTGGC | ENSP00000503392.1:n.4548_4556delinsTGGC | |
| ENST00000678304.1:n.48_56delinsTGGC | ||
| ENST00000344736.8:c.4269_4277delinsTGGC | ENSP00000358863.3:p.Leu1424GlyfsTer19 | |
| ENST00000360319.8:c.4269_4277delinsTGGC | ENSP00000353467.4:p.Leu1424GlyfsTer19 | |
| ENST00000369850.7:c.4269_4277delinsTGGC | ENSP00000358866.3:p.Leu1424GlyfsTer19 | |
| ENST00000369856.7:c.4188_4196delinsTGGC | ENSP00000358872.4:p.Leu1397GlyfsTer19 | |
| ENST00000420627.5:c.4225_4233delinsTGGC | ENSP00000408921.1:n.4225_4233delinsTGGC | |
| ENST00000422373.5:c.4269_4277delinsTGGC | ENSP00000416926.1:p.Leu1424GlyfsTer19 | |
| ENST00000490936.5:n.282_290delinsTGGC | ||
| ENST00000610817.4:c.4188_4196delinsTGGC | ENSP00000480593.1:p.Leu1397GlyfsTer19 | |
| NM_001110556.1:c.4269_4277delinsTGGC | NP_001104026.1:p.Leu1424GlyfsTer19 | |
| NM_001456.3:c.4269_4277delinsTGGC | NP_001447.2:p.Leu1424GlyfsTer19 | |
| XM_011531127.1:c.4269_4277delinsTGGC | XP_011529429.1:p.Leu1424GlyfsTer19 | |
| XM_011531128.1:c.4269_4277delinsTGGC | XP_011529430.1:p.Leu1424GlyfsTer19 | |
| XM_011531129.1:c.4269_4277delinsTGGC | XP_011529431.1:p.Leu1424GlyfsTer19 | |
| XM_011531130.1:c.4269_4277delinsTGGC | XP_011529432.1:p.Leu1424GlyfsTer19 | |
| XM_011531131.1:c.4068_4076delinsTGGC | XP_011529433.1:p.Leu1357GlyfsTer19 | |
| NM_001110556.2:c.4269_4277delinsTGGC MANE Select | NP_001104026.1:p.Leu1424GlyfsTer19 | |
| NM_001456.4:c.4269_4277delinsTGGC | NP_001447.2:p.Leu1424GlyfsTer19 |