Linked Data
ClinVar Variation Id:
3073926
ClinVar RCV Id:
RCV004012468
dbSNP Id:
rs770699863
ExAC:
1:55527143 GAGGC / G
gnomAD v2:
1-55527143-GAGGC-G
gnomAD v4:
1-55061470-GAGGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061471_55061474del , CM000663.2:g.55061471_55061474del | GRCh38 |
| NC_000001.10:g.55527144_55527147del , CM000663.1:g.55527144_55527147del | GRCh37 |
| NC_000001.9:g.55299732_55299735del | NCBI36 |
| NG_009061.1:g.26925_26928del , LRG_275:g.26925_26928del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*118_*121del | ENSP00000501161.2:n.*118_*121del | |
| ENST00000710286.1:c.2135_2138del | ENSP00000518176.1:p.Glu712AlafsTer29 | |
| ENST00000673903.1:c.1403_1406del | ENSP00000501257.1:p.Glu468AlafsTer29 | |
| ENST00000673913.1:c.628_631del | ENSP00000501161.1:n.628_631del | |
| ENST00000302118.5:c.1778_1781del MANE Select | ENSP00000303208.5:p.Glu593AlafsTer29 | |
| ENST00000490692.1:n.2324_2327del | ||
| NM_174936.3:c.1778_1781del , LRG_275t1:c.1778_1781del | NP_777596.2:p.Glu593AlafsTer29 | |
| NR_110451.1:n.1385_1388del | ||
| XM_011541193.1:c.899_902del | XP_011539495.1:p.Glu300AlafsTer29 | |
| NM_174936.4:c.1778_1781del MANE Select | NP_777596.2:p.Glu593AlafsTer29 | |
| NR_110451.2:n.1385_1388del |