Linked Data
ClinVar Variation Id:
179299
ClinVar RCV Id:
RCV000156088
dbSNP Id:
rs727504773
MyVariant Identifiers:
chrX:g.100653553_100653558delinsAAAGTTGCC (hg19)
chrX:g.101398565_101398570delinsAAAGTTGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398565_101398570delinsAAAGTTGCC , CM000685.2:g.101398565_101398570delinsAAAGTTGCC | GRCh38 |
| NC_000023.10:g.100653553_100653558delinsAAAGTTGCC , CM000685.1:g.100653553_100653558delinsAAAGTTGCC | GRCh37 |
| NC_000023.9:g.100540209_100540214delinsAAAGTTGCC | NCBI36 |
| NG_007119.1:g.14394_14399delinsGGCAACTTT , LRG_672:g.14394_14399delinsGGCAACTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*248-3_*250delinsGGCAACTTT (GLA) | ||
| ENST00000674127.2:c.*305-3_*307delinsGGCAACTTT (GLA) | ||
| ENST00000710365.1:c.877-3_879delinsGGCAACTTT (GLA) | ||
| ENST00000218516.4:c.802-3_804delinsGGCAACTTT (GLA) | ||
| ENST00000466414.2:n.935_940delinsGGCAACTTT (GLA) | ||
| ENST00000468823.2:n.1951_1956delinsGGCAACTTT (GLA) | ||
| ENST00000479445.2:n.1413_1418delinsGGCAACTTT (GLA) | ||
| ENST00000480513.6:c.*110-3_*112delinsGGCAACTTT (GLA) | ||
| ENST00000486121.6:c.847-3_849delinsGGCAACTTT (GLA) | ||
| ENST00000649178.1:c.925-3_927delinsGGCAACTTT (GLA) | ||
| ENST00000674127.1:c.902-3_904delinsGGCAACTTT (GLA) | ||
| ENST00000674142.1:n.1103_1108delinsGGCAACTTT (GLA) | ||
| ENST00000674634.2:c.802-3_804delinsGGCAACTTT (GLA) | ||
| ENST00000675592.1:c.801+215_801+220delinsGGCAACTTT (GLA) | ENSP00000502239.1:n.801+215_801+220delinsGGCAACTTT | |
| ENST00000675799.1:c.*324_*329delinsGGCAACTTT (GLA) | ENSP00000502661.1:n.*324_*329delinsGGCAACTTT | |
| ENST00000675968.1:n.3670_3675delinsGGCAACTTT (GLA) | ||
| ENST00000676156.1:c.766-3_768delinsGGCAACTTT (GLA) | ||
| ENST00000676372.1:c.868-3_870delinsGGCAACTTT (GLA) | ||
| ENST00000218516.3:c.802-3_804delinsGGCAACTTT (GLA) | ||
| ENST00000409170.3:c.300+3108_300+3113delinsAAAGTTGCC (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3108_300+3113delinsAAAGTTGCC | |
| ENST00000409338.5:c.177+6743_177+6748delinsAAAGTTGCC (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6743_177+6748delinsAAAGTTGCC | |
| ENST00000466414.1:n.125_130delinsGGCAACTTT (GLA) | ||
| ENST00000468823.1:n.565_570delinsGGCAACTTT (GLA) | ||
| ENST00000493905.6:c.*190-3_*192delinsGGCAACTTT (GLA) | ||
| NM_000169.2:c.802-3_804delinsGGCAACTTT , LRG_672t1:c.802-3_804delinsGGCAACTTT (GLA) | ||
| NM_001199973.1:c.408+3108_408+3113delinsAAAGTTGCC (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3108_408+3113delinsAAAGTTGCC | |
| NM_001199974.1:c.285+6743_285+6748delinsAAAGTTGCC (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6743_285+6748delinsAAAGTTGCC | |
| XR_938397.1:n.887-3_889delinsGGCAACTTT (GLA) | ||
| XR_938397.2:n.908-3_910delinsGGCAACTTT (GLA) | ||
| NM_001199973.2:c.300+3108_300+3113delinsAAAGTTGCC (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3108_300+3113delinsAAAGTTGCC | |
| NM_001199974.2:c.177+6743_177+6748delinsAAAGTTGCC (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6743_177+6748delinsAAAGTTGCC | |
| NM_000169.3:c.802-3_804delinsGGCAACTTT (GLA) | ||
| NR_164783.1:n.881-3_883delinsGGCAACTTT (GLA) |