Linked Data
dbSNP Id:
rs756995200
ExAC:
8:144657311 CAG / C
gnomAD v2:
8-144657311-CAG-C
gnomAD v4:
8-143575141-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143575142_143575143del , CM000670.2:g.143575142_143575143del | GRCh38 |
| NC_000008.10:g.144657312_144657313del , CM000670.1:g.144657312_144657313del | GRCh37 |
| NC_000008.9:g.144728455_144728456del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449291.7:c.1446+48_1447-49del MANE Select | ENSP00000401508.2:n.1446+48_1447-49del | |
| ENST00000340490.7:c.1446+48_1447-49del | ENSP00000341136.3:n.1446+48_1447-49del | |
| ENST00000426292.7:c.1408-50_1408-49del | ENSP00000390949.3:n.1408-50_1408-49del | |
| ENST00000435154.7:c.*21_*22del | ENSP00000405670.3:n.*21_*22del | |
| ENST00000449291.6:c.1446+48_1447-49del | ENSP00000401508.2:n.1446+48_1447-49del | |
| ENST00000460623.5:c.386-50_386-49del | ||
| ENST00000464332.5:n.990+48_991-49del | ||
| ENST00000498076.5:n.225+48_226-49del | ||
| ENST00000529179.1:n.181_182del | ||
| NM_001286829.1:c.1408-50_1408-49del | NP_001273758.1:n.1408-50_1408-49del | |
| NM_145201.5:c.1446+48_1447-49del | NP_660202.3:n.1446+48_1447-49del | |
| XM_011517377.1:c.1292-243_1292-242del | XP_011515679.1:n.1292-243_1292-242del | |
| NM_001363145.1:c.1365+48_1366-49del | NP_001350074.1:n.1365+48_1366-49del | |
| NM_001363146.1:c.762+48_763-49del | NP_001350075.1:n.762+48_763-49del | |
| XM_017013975.2:c.1665+48_1666-49del | XP_016869464.1:n.1665+48_1666-49del | |
| XM_017013976.2:c.1665+48_1666-49del | XP_016869465.1:n.1665+48_1666-49del | |
| XM_017013977.2:c.1365+48_1366-49del | XP_016869466.1:n.1365+48_1366-49del | |
| XM_017013978.2:c.1511-243_1511-242del | XP_016869467.1:n.1511-243_1511-242del | |
| XM_017013979.2:c.762+48_763-49del | XP_016869468.1:n.762+48_763-49del | |
| XM_024447332.1:c.929-243_929-242del | XP_024303100.1:n.929-243_929-242del | |
| XM_024447333.1:c.681+48_682-49del | XP_024303101.1:n.681+48_682-49del | |
| NM_145201.6:c.1446+48_1447-49del MANE Select | NP_660202.3:n.1446+48_1447-49del | |
| NM_001286829.2:c.1408-50_1408-49del | NP_001273758.1:n.1408-50_1408-49del |