Linked Data
ClinVar Variation Id:
2419221
ClinVar RCV Id:
RCV003112465
dbSNP Id:
rs1423483871
gnomAD v3:
9-135769960-TGAG-T
gnomAD v4:
9-135769960-TGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135769967_135769969del , CM000671.2:g.135769967_135769969del | GRCh38 |
| NC_000009.11:g.138661813_138661815del , CM000671.1:g.138661813_138661815del | GRCh37 |
| NC_000009.10:g.137801634_137801636del | NCBI36 |
| NG_033070.1:g.72783_72785del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1531_1533del MANE Select | ENSP00000360822.2:p.Glu511del | |
| ENST00000674572.1:c.1372_1374del | ENSP00000501742.1:p.Glu458del | |
| ENST00000675090.1:c.1279_1281del | ENSP00000501833.1:p.Glu427del | |
| ENST00000675399.1:c.1279_1281del | ENSP00000501932.1:p.Glu427del | |
| ENST00000676421.1:c.1288_1290del | ENSP00000502322.1:p.Glu430del | |
| ENST00000263604.5:c.1432_1434del | ENSP00000263604.4:p.Glu478del | |
| ENST00000371757.6:c.1531_1533del | ENSP00000360822.2:p.Glu511del | |
| ENST00000460750.5:c.*1141_*1143del | ENSP00000418777.1:n.*1141_*1143del | |
| ENST00000486577.6:c.1414_1416del | ENSP00000417578.3:p.Glu472del | |
| ENST00000487664.5:c.1531_1533del | ENSP00000417851.2:p.Glu511del | |
| ENST00000488444.6:c.1474_1476del | ENSP00000419007.3:p.Glu492del | |
| ENST00000490355.6:c.1474_1476del | ENSP00000418003.3:p.Glu492del | |
| ENST00000490363.3:n.1350_1352del | ||
| ENST00000491806.6:c.1474_1476del | ENSP00000419086.3:p.Glu492del | |
| ENST00000628528.2:c.1396_1398del | ENSP00000486374.1:p.Glu466del | |
| ENST00000630792.2:c.1372_1374del | ENSP00000486486.1:p.Glu458del | |
| ENST00000631073.2:c.1474_1476del | ENSP00000486130.1:p.Glu492del | |
| NM_001272003.1:c.1396_1398del | NP_001258932.1:p.Glu466del | |
| NM_020822.2:c.1531_1533del | NP_065873.2:p.Glu511del | |
| XM_011518877.1:c.1666_1668del | XP_011517179.1:p.Glu556del | |
| XM_011518878.1:c.1675_1677del | XP_011517180.1:p.Glu559del | |
| XM_011518879.1:c.1666_1668del | XP_011517181.1:p.Glu556del | |
| XM_011518880.1:c.1432_1434del | XP_011517182.1:p.Glu478del | |
| XM_011518881.1:c.1021_1023del | XP_011517183.1:p.Glu341del | |
| XM_011518877.3:c.1666_1668del | XP_011517179.1:p.Glu556del | |
| XM_011518878.3:c.1675_1677del | XP_011517180.1:p.Glu559del | |
| XM_011518879.3:c.1666_1668del | XP_011517181.1:p.Glu556del | |
| XM_011518881.3:c.1021_1023del | XP_011517183.1:p.Glu341del | |
| XM_017014931.1:c.1465_1467del | XP_016870420.1:p.Glu489del | |
| XM_017014932.1:c.1288_1290del | XP_016870421.1:p.Glu430del | |
| XM_017014933.1:c.1021_1023del | XP_016870422.1:p.Glu341del | |
| XM_024447617.1:c.1021_1023del | XP_024303385.1:p.Glu341del | |
| XM_024447618.1:c.1021_1023del | XP_024303386.1:p.Glu341del | |
| NM_020822.3:c.1531_1533del MANE Select | NP_065873.2:p.Glu511del | |
| NM_001272003.2:c.1396_1398del | NP_001258932.1:p.Glu466del |