Linked Data
ClinVar Variation Id:
344235
ClinVar RCV Id:
RCV000341983
dbSNP Id:
rs886058189
gnomAD v4:
3-180614113-AACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180614119_180614121del , CM000665.2:g.180614119_180614121del | GRCh38 |
| NC_000003.11:g.180331907_180331909del , CM000665.1:g.180331907_180331909del | GRCh37 |
| NC_000003.10:g.181814601_181814603del | NCBI36 |
| NG_029581.1:g.70380_70382del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.*805_*807del (CCDC39) MANE Select | ENSP00000417960.2:n.*805_*807del | |
| ENST00000489868.6:c.186-252_186-250del (CCDC39) | ENSP00000420025.1:n.186-252_186-250del | |
| ENST00000651046.1:c.*805_*807del (CCDC39) | ENSP00000499175.1:n.*805_*807del | |
| ENST00000652010.1:n.3707_3709del (CCDC39) | ||
| ENST00000382584.8:c.1775-3261_1775-3259del (TTC14) | ENSP00000372027.4:n.1775-3261_1775-3259del | |
| ENST00000473854.5:c.303-252_303-250del | ||
| ENST00000476379.5:c.*1455_*1457del | ENSP00000417960.1:n.*1455_*1457del | |
| ENST00000489868.5:c.186-252_186-250del | ENSP00000420025.1:n.186-252_186-250del | |
| NM_001288582.1:c.1775-3261_1775-3259del (TTC14) | NP_001275511.1:n.1775-3261_1775-3259del | |
| NM_181426.1:c.*805_*807del (CCDC39) | NP_852091.1:n.*805_*807del | |
| NM_181426.2:c.*805_*807del (CCDC39) MANE Select | NP_852091.1:n.*805_*807del | |
| NM_001288582.2:c.1775-3261_1775-3259del (TTC14) | NP_001275511.1:n.1775-3261_1775-3259del |