Linked Data
ClinVar Variation Id:
316531
ClinVar RCV Id:
RCV000378066
dbSNP Id:
rs5812689
gnomAD v2:
15-53807303-C-CACAA
gnomAD v3:
15-53515106-C-CACAA
gnomAD v4:
15-53515106-C-CACAA
MyVariant Identifiers:
chr15:g.53807303_53807304insACAA (hg19)
chr15:g.53515106_53515107insACAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.53515107_53515108insCAAA , CM000677.2:g.53515107_53515108insCAAA | GRCh38 |
| NC_000015.9:g.53807304_53807305insCAAA , CM000677.1:g.53807304_53807305insCAAA | GRCh37 |
| NC_000015.8:g.51594596_51594597insCAAA | NCBI36 |
| NG_017034.2:g.249556_249557insTTGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360509.10:c.*2592_*2593insTTGT MANE Select | ENSP00000353699.5:n.*2592_*2593insTTGT | |
| ENST00000396328.5:c.*2592_*2593insTTGT | ENSP00000379619.1:n.*2592_*2593insTTGT | |
| ENST00000567224.1:n.2967_2968insTTGT | ||
| ENST00000614174.4:c.2859_2860insTTGT | ENSP00000477754.1:n.2859_2860insTTGT | |
| NM_001277176.1:c.*2592_*2593insTTGT | NP_001264105.1:n.*2592_*2593insTTGT | |
| NM_182758.3:c.*2592_*2593insTTGT | NP_877435.3:n.*2592_*2593insTTGT | |
| NR_102334.1:n.6141_6142insTTGT | ||
| NR_102335.1:n.2967_2968insTTGT | ||
| NR_102336.1:n.2944_2945insTTGT | ||
| XM_011521433.1:c.*2592_*2593insTTGT | XP_011519735.1:n.*2592_*2593insTTGT | |
| XM_011521434.1:c.*2592_*2593insTTGT | XP_011519736.1:n.*2592_*2593insTTGT | |
| XM_011521435.1:c.*2592_*2593insTTGT | XP_011519737.1:n.*2592_*2593insTTGT | |
| XM_011521436.1:c.*2592_*2593insTTGT | XP_011519738.1:n.*2592_*2593insTTGT | |
| XM_011521437.1:c.*2592_*2593insTTGT | XP_011519739.1:n.*2592_*2593insTTGT | |
| XR_001751551.1:n.1410+204_1410+205insCAAA | ||
| XR_001751552.1:n.1489+204_1489+205insCAAA | ||
| XR_001751553.1:n.1502+204_1502+205insCAAA | ||
| NM_182758.4:c.*2592_*2593insTTGT MANE Select | NP_877435.3:n.*2592_*2593insTTGT | |
| NM_001277176.2:c.*2592_*2593insTTGT | NP_001264105.1:n.*2592_*2593insTTGT | |
| NR_102334.2:n.6141_6142insTTGT | ||
| NR_102335.2:n.2967_2968insTTGT |