Linked Data
dbSNP Id:
rs544737369
gnomAD v2:
9-138656784-AACAG-A
gnomAD v3:
9-135764938-AACAG-A
gnomAD v4:
9-135764938-AACAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135764943_135764946del , CM000671.2:g.135764943_135764946del | GRCh38 |
| NC_000009.11:g.138656789_138656792del , CM000671.1:g.138656789_138656792del | GRCh37 |
| NC_000009.10:g.137796610_137796613del | NCBI36 |
| NG_033070.1:g.67759_67762del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1036-88_1036-85del MANE Select | ENSP00000360822.2:n.1036-88_1036-85del | |
| ENST00000674572.1:c.877-88_877-85del | ENSP00000501742.1:n.877-88_877-85del | |
| ENST00000675090.1:c.784-88_784-85del | ENSP00000501833.1:n.784-88_784-85del | |
| ENST00000675399.1:c.784-88_784-85del | ENSP00000501932.1:n.784-88_784-85del | |
| ENST00000676421.1:c.793-88_793-85del | ENSP00000502322.1:n.793-88_793-85del | |
| ENST00000263604.5:c.937-88_937-85del | ENSP00000263604.4:n.937-88_937-85del | |
| ENST00000371757.6:c.1036-88_1036-85del | ENSP00000360822.2:n.1036-88_1036-85del | |
| ENST00000460750.5:c.*646-88_*646-85del | ENSP00000418777.1:n.*646-88_*646-85del | |
| ENST00000486577.6:c.919-88_919-85del | ENSP00000417578.3:n.919-88_919-85del | |
| ENST00000487664.5:c.1036-88_1036-85del | ENSP00000417851.2:n.1036-88_1036-85del | |
| ENST00000488444.6:c.979-88_979-85del | ENSP00000419007.3:n.979-88_979-85del | |
| ENST00000490355.6:c.979-88_979-85del | ENSP00000418003.3:n.979-88_979-85del | |
| ENST00000490363.3:n.855-88_855-85del | ||
| ENST00000491806.6:c.979-88_979-85del | ENSP00000419086.3:n.979-88_979-85del | |
| ENST00000628528.2:c.901-88_901-85del | ENSP00000486374.1:n.901-88_901-85del | |
| ENST00000630792.2:c.877-88_877-85del | ENSP00000486486.1:n.877-88_877-85del | |
| ENST00000631073.2:c.979-88_979-85del | ENSP00000486130.1:n.979-88_979-85del | |
| NM_001272003.1:c.901-88_901-85del | NP_001258932.1:n.901-88_901-85del | |
| NM_020822.2:c.1036-88_1036-85del | NP_065873.2:n.1036-88_1036-85del | |
| XM_011518877.1:c.1171-88_1171-85del | XP_011517179.1:n.1171-88_1171-85del | |
| XM_011518878.1:c.1180-88_1180-85del | XP_011517180.1:n.1180-88_1180-85del | |
| XM_011518879.1:c.1171-88_1171-85del | XP_011517181.1:n.1171-88_1171-85del | |
| XM_011518880.1:c.937-88_937-85del | XP_011517182.1:n.937-88_937-85del | |
| XM_011518881.1:c.526-88_526-85del | XP_011517183.1:n.526-88_526-85del | |
| XM_011518877.3:c.1171-88_1171-85del | XP_011517179.1:n.1171-88_1171-85del | |
| XM_011518878.3:c.1180-88_1180-85del | XP_011517180.1:n.1180-88_1180-85del | |
| XM_011518879.3:c.1171-88_1171-85del | XP_011517181.1:n.1171-88_1171-85del | |
| XM_011518881.3:c.526-88_526-85del | XP_011517183.1:n.526-88_526-85del | |
| XM_017014931.1:c.970-88_970-85del | XP_016870420.1:n.970-88_970-85del | |
| XM_017014932.1:c.793-88_793-85del | XP_016870421.1:n.793-88_793-85del | |
| XM_017014933.1:c.526-88_526-85del | XP_016870422.1:n.526-88_526-85del | |
| XM_024447617.1:c.526-88_526-85del | XP_024303385.1:n.526-88_526-85del | |
| XM_024447618.1:c.526-88_526-85del | XP_024303386.1:n.526-88_526-85del | |
| NM_020822.3:c.1036-88_1036-85del MANE Select | NP_065873.2:n.1036-88_1036-85del | |
| NM_001272003.2:c.901-88_901-85del | NP_001258932.1:n.901-88_901-85del |