Linked Data
ClinVar Variation Id:
504037
ClinVar RCV Id:
RCV000733785
dbSNP Id:
rs782172407
ExAC:
8:144911443 CACTT / C
gnomAD v2:
8-144911443-CACTT-C
gnomAD v4:
8-143829273-CACTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143829276_143829279del , CM000670.2:g.143829276_143829279del | GRCh38 |
| NC_000008.10:g.144911446_144911449del , CM000670.1:g.144911446_144911449del | GRCh37 |
| NC_000008.9:g.144983434_144983437del | NCBI36 |
| NG_033879.1:g.5110_5113del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526151.6:n.55+3_55+6del | ||
| ENST00000526459.6:c.24+3_24+6del | ENSP00000432610.2:n.24+3_24+6del | |
| ENST00000527744.6:c.24+3_24+6del | ENSP00000436131.2:n.24+3_24+6del | |
| ENST00000532127.6:c.24+3_24+6del | ENSP00000515484.1:n.24+3_24+6del | |
| ENST00000533162.2:c.-18+3_-18+6del | ENSP00000433403.2:n.-18+3_-18+6del | |
| ENST00000703849.1:c.-242+3_-242+6del | ENSP00000515501.1:n.-242+3_-242+6del | |
| ENST00000703850.1:c.-116+3_-116+6del | ENSP00000515503.1:n.-116+3_-116+6del | |
| ENST00000703852.1:c.24+3_24+6del | ENSP00000515504.1:n.24+3_24+6del | |
| ENST00000703866.1:c.24+3_24+6del | ENSP00000515511.1:n.24+3_24+6del | |
| ENST00000526683.6:c.24+3_24+6del MANE Select | ENSP00000434359.1:n.24+3_24+6del | |
| ENST00000349157.10:c.24+3_24+6del | ENSP00000322036.7:n.24+3_24+6del | |
| ENST00000456095.6:c.24+3_24+6del | ENSP00000395417.2:n.24+3_24+6del | |
| ENST00000526151.5:n.36+3_36+6del | ||
| ENST00000526459.5:c.24+3_24+6del | ENSP00000432610.1:n.24+3_24+6del | |
| ENST00000526683.5:c.24+3_24+6del | ENSP00000434359.1:n.24+3_24+6del | |
| ENST00000527197.5:c.24+3_24+6del | ENSP00000431960.1:n.24+3_24+6del | |
| ENST00000527744.5:c.20+3_20+6del | ||
| ENST00000531897.5:c.-18+3_-18+6del | ENSP00000437309.1:n.-18+3_-18+6del | |
| ENST00000532127.5:n.40+3_40+6del | ||
| ENST00000533162.1:c.-18+3_-18+6del | ENSP00000433403.1:n.-18+3_-18+6del | |
| NM_001271096.1:c.24+3_24+6del | NP_001258025.1:n.24+3_24+6del | |
| NM_001271097.1:c.24+3_24+6del | NP_001258026.1:n.24+3_24+6del | |
| NM_001271098.1:c.24+3_24+6del | NP_001258027.1:n.24+3_24+6del | |
| NM_001271099.1:c.24+3_24+6del | NP_001258028.1:n.24+3_24+6del | |
| NM_014281.4:c.24+3_24+6del | NP_055096.2:n.24+3_24+6del | |
| NM_078480.2:c.24+3_24+6del | NP_510965.1:n.24+3_24+6del | |
| NM_001271096.2:c.24+3_24+6del | NP_001258025.1:n.24+3_24+6del | |
| NM_001271097.2:c.24+3_24+6del | NP_001258026.1:n.24+3_24+6del | |
| NM_001271098.2:c.24+3_24+6del | NP_001258027.1:n.24+3_24+6del | |
| NM_001271099.2:c.24+3_24+6del | NP_001258028.1:n.24+3_24+6del | |
| NM_014281.5:c.24+3_24+6del | NP_055096.2:n.24+3_24+6del | |
| NM_078480.3:c.24+3_24+6del MANE Select | NP_510965.1:n.24+3_24+6del |