Linked Data
ClinVar Variation Id:
592360
dbSNP Id:
rs781093215
ExAC:
14:77753077 GCTTA / G
gnomAD v2:
14-77753077-GCTTA-G
gnomAD v3:
14-77286734-GCTTA-G
gnomAD v4:
14-77286734-GCTTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77286741_77286744del , CM000676.2:g.77286741_77286744del | GRCh38 |
| NC_000014.8:g.77753084_77753087del , CM000676.1:g.77753084_77753087del | GRCh37 |
| NC_000014.7:g.76822837_76822840del | NCBI36 |
| NG_008897.1:g.39145_39148del , LRG_844:g.39145_39148del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.873+6_873+9del | ||
| ENST00000682247.1:c.1332+6_1332+9del | ||
| ENST00000682382.1:c.904+6_904+9del | ||
| ENST00000682395.1:n.1510+6_1510+9del | ||
| ENST00000682459.1:n.1035+6_1035+9del | ||
| ENST00000682467.1:c.1332+6_1332+9del | ||
| ENST00000682795.1:c.1332+6_1332+9del | ||
| ENST00000682895.1:n.1048+6_1048+9del | ||
| ENST00000682955.1:n.620+6_620+9del | ||
| ENST00000683188.1:c.1307+6_1307+9del | ||
| ENST00000683380.1:n.996+6_996+9del | ||
| ENST00000683828.1:c.1041+6_1041+9del | ||
| ENST00000684259.1:n.1183+6_1183+9del | ||
| ENST00000684444.1:c.83+2_83+5del | ||
| ENST00000684549.1:n.883+6_883+9del | ||
| ENST00000261534.9:c.1332+6_1332+9del | ||
| ENST00000261534.8:c.1332+6_1332+9del | ||
| ENST00000452340.7:n.1355+6_1355+9del | ||
| ENST00000553880.5:n.203+6_203+9del | ||
| ENST00000554767.5:n.2118+6_2118+9del | ||
| ENST00000554884.5:n.324+6_324+9del | ||
| ENST00000556404.1:n.466+6_466+9del | ||
| ENST00000557675.5:n.422+6_422+9del | ||
| NM_013382.5:c.1332+6_1332+9del , LRG_844t1:c.1332+6_1332+9del | ||
| XM_011536675.1:c.1332+6_1332+9del | ||
| XM_011536676.1:c.999+6_999+9del | ||
| XM_011536677.1:c.873+6_873+9del | ||
| XM_011536678.1:c.1332+6_1332+9del | ||
| XM_011536679.1:c.426+6_426+9del | ||
| XR_943416.1:n.1535+6_1535+9del | ||
| XM_011536675.2:c.1332+6_1332+9del | ||
| XM_011536676.2:c.999+6_999+9del | ||
| XM_011536677.3:c.873+6_873+9del | ||
| XR_001750279.1:n.1532+6_1532+9del | ||
| XR_001750282.1:n.1985+6_1985+9del | ||
| XR_943416.3:n.1533+6_1533+9del | ||
| NM_013382.6:c.1332+6_1332+9del | ||
| NM_013382.7:c.1332+6_1332+9del |