Linked Data
dbSNP Id:
rs1172910292
gnomAD v3:
9-135765959-GGGGTGGACCATTCA-G
gnomAD v4:
9-135765959-GGGGTGGACCATTCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135765969_135765982del , CM000671.2:g.135765969_135765982del | GRCh38 |
| NC_000009.11:g.138657815_138657828del , CM000671.1:g.138657815_138657828del | GRCh37 |
| NC_000009.10:g.137797636_137797649del | NCBI36 |
| NG_033070.1:g.68785_68798del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1337+209_1337+222del MANE Select | ENSP00000360822.2:n.1337+209_1337+222del | |
| ENST00000636003.1:c.27+209_27+222del | ||
| ENST00000636995.1:n.64+209_64+222del | ||
| ENST00000637798.1:n.76+209_76+222del | ||
| ENST00000674572.1:c.1178+209_1178+222del | ENSP00000501742.1:n.1178+209_1178+222del | |
| ENST00000675090.1:c.1085+209_1085+222del | ENSP00000501833.1:n.1085+209_1085+222del | |
| ENST00000675399.1:c.1085+209_1085+222del | ENSP00000501932.1:n.1085+209_1085+222del | |
| ENST00000676421.1:c.1094+209_1094+222del | ENSP00000502322.1:n.1094+209_1094+222del | |
| ENST00000263604.5:c.1238+209_1238+222del | ENSP00000263604.4:n.1238+209_1238+222del | |
| ENST00000371757.6:c.1337+209_1337+222del | ENSP00000360822.2:n.1337+209_1337+222del | |
| ENST00000460750.5:c.*947+209_*947+222del | ENSP00000418777.1:n.*947+209_*947+222del | |
| ENST00000486577.6:c.1220+209_1220+222del | ENSP00000417578.3:n.1220+209_1220+222del | |
| ENST00000487664.5:c.1337+209_1337+222del | ENSP00000417851.2:n.1337+209_1337+222del | |
| ENST00000488444.6:c.1280+209_1280+222del | ENSP00000419007.3:n.1280+209_1280+222del | |
| ENST00000490355.6:c.1280+209_1280+222del | ENSP00000418003.3:n.1280+209_1280+222del | |
| ENST00000490363.3:n.1156+209_1156+222del | ||
| ENST00000491806.6:c.1280+209_1280+222del | ENSP00000419086.3:n.1280+209_1280+222del | |
| ENST00000628528.2:c.1202+209_1202+222del | ENSP00000486374.1:n.1202+209_1202+222del | |
| ENST00000630792.2:c.1178+209_1178+222del | ENSP00000486486.1:n.1178+209_1178+222del | |
| ENST00000631073.2:c.1280+209_1280+222del | ENSP00000486130.1:n.1280+209_1280+222del | |
| NM_001272003.1:c.1202+209_1202+222del | NP_001258932.1:n.1202+209_1202+222del | |
| NM_020822.2:c.1337+209_1337+222del | NP_065873.2:n.1337+209_1337+222del | |
| XM_011518877.1:c.1472+209_1472+222del | XP_011517179.1:n.1472+209_1472+222del | |
| XM_011518878.1:c.1481+209_1481+222del | XP_011517180.1:n.1481+209_1481+222del | |
| XM_011518879.1:c.1472+209_1472+222del | XP_011517181.1:n.1472+209_1472+222del | |
| XM_011518880.1:c.1238+209_1238+222del | XP_011517182.1:n.1238+209_1238+222del | |
| XM_011518881.1:c.827+209_827+222del | XP_011517183.1:n.827+209_827+222del | |
| XM_011518877.3:c.1472+209_1472+222del | XP_011517179.1:n.1472+209_1472+222del | |
| XM_011518878.3:c.1481+209_1481+222del | XP_011517180.1:n.1481+209_1481+222del | |
| XM_011518879.3:c.1472+209_1472+222del | XP_011517181.1:n.1472+209_1472+222del | |
| XM_011518881.3:c.827+209_827+222del | XP_011517183.1:n.827+209_827+222del | |
| XM_017014931.1:c.1271+209_1271+222del | XP_016870420.1:n.1271+209_1271+222del | |
| XM_017014932.1:c.1094+209_1094+222del | XP_016870421.1:n.1094+209_1094+222del | |
| XM_017014933.1:c.827+209_827+222del | XP_016870422.1:n.827+209_827+222del | |
| XM_024447617.1:c.827+209_827+222del | XP_024303385.1:n.827+209_827+222del | |
| XM_024447618.1:c.827+209_827+222del | XP_024303386.1:n.827+209_827+222del | |
| NM_020822.3:c.1337+209_1337+222del MANE Select | NP_065873.2:n.1337+209_1337+222del | |
| NM_001272003.2:c.1202+209_1202+222del | NP_001258932.1:n.1202+209_1202+222del |