Linked Data
ClinVar Variation Id:
5446
ClinVar RCV Id:
RCV000005779
dbSNP Id:
rs606231162
gnomAD v2:
8-31012137-TAGAC-T
gnomAD v4:
8-31154621-TAGAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31154626_31154629del , CM000670.2:g.31154626_31154629del | GRCh38 |
| NC_000008.10:g.31012142_31012145del , CM000670.1:g.31012142_31012145del | GRCh37 |
| NC_000008.9:g.31131684_31131687del | NCBI36 |
| NG_008870.1:g.126365_126368del , LRG_524:g.126365_126368del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298139.7:c.3690_3693del | ||
| ENST00000650667.1:c.*3304_*3307del | ||
| ENST00000298139.5:c.3690_3693del | ||
| ENST00000521620.5:n.2323_2326del | ||
| NM_000553.4:c.3690_3693del , LRG_524t1:c.3690_3693del | ||
| XM_011544639.1:c.3609_3612del | ||
| XM_011544640.1:c.2091_2094del | ||
| XR_949470.1:n.3963_3966del | ||
| XR_949471.1:n.3963_3966del | ||
| XR_949472.1:n.3963_3966del | ||
| XR_949643.1:n.457-5960_457-5957del | ||
| XR_949644.1:n.381-5960_381-5957del | ||
| XR_949647.1:n.1070-5960_1070-5957del | ||
| XR_949648.1:n.972-5960_972-5957del | ||
| NM_000553.5:c.3690_3693del | ||
| XM_011544639.3:c.3609_3612del | ||
| XM_024447265.1:c.3480_3483del | ||
| XR_949470.3:n.3991_3994del | ||
| XR_949471.3:n.3991_3994del | ||
| XR_949472.3:n.3991_3994del | ||
| NM_000553.6:c.3690_3693del |