Linked Data
ClinVar Variation Id:
542025
ClinVar RCV Id:
RCV000652390
dbSNP Id:
rs575629886
ExAC:
8:48801791 AGATT / A
gnomAD v2:
8-48801791-AGATT-A
gnomAD v3:
8-47889230-AGATT-A
gnomAD v4:
8-47889230-AGATT-A
COSMIC:
COSM5020448
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47889232_47889235del , CM000670.2:g.47889232_47889235del | GRCh38 |
| NC_000008.10:g.48801793_48801796del , CM000670.1:g.48801793_48801796del | GRCh37 |
| NC_000008.9:g.48964346_48964349del | NCBI36 |
| NG_023435.1:g.75950_75953del , LRG_162:g.75950_75953del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314191.7:c.4072-12_4072-9del MANE Select | ENSP00000313420.3:n.4072-12_4072-9del | |
| ENST00000314191.6:c.4072-12_4072-9del | ENSP00000313420.3:n.4072-12_4072-9del | |
| ENST00000338368.7:c.4072-12_4072-9del | ENSP00000345182.4:n.4072-12_4072-9del | |
| NM_001081640.1:c.4072-12_4072-9del | NP_001075109.1:n.4072-12_4072-9del | |
| NM_006904.6:c.4072-12_4072-9del , LRG_162t1:c.4072-12_4072-9del | NP_008835.5:n.4072-12_4072-9del | |
| XM_011517567.1:c.4072-12_4072-9del | XP_011515869.1:n.4072-12_4072-9del | |
| XM_011517568.1:c.4072-12_4072-9del | XP_011515870.1:n.4072-12_4072-9del | |
| NM_001081640.2:c.4072-12_4072-9del | NP_001075109.1:n.4072-12_4072-9del | |
| NM_006904.7:c.4072-12_4072-9del MANE Select | NP_008835.5:n.4072-12_4072-9del |