Linked Data
dbSNP Id:
rs1357617074
gnomAD v2:
6-76623835-CCGACAGCAA-C
gnomAD v4:
6-75914118-CCGACAGCAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75914121_75914129del , CM000668.2:g.75914121_75914129del | GRCh38 |
| NC_000006.11:g.76623838_76623846del , CM000668.1:g.76623838_76623846del | GRCh37 |
| NC_000006.10:g.76680558_76680566del | NCBI36 |
| NG_009934.1:g.169930_169938del | |
| NG_009934.2:g.169929_169937del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369975.6:c.3402_3410del | ENSP00000358992.1:p.Gln1135_Arg1137del | |
| ENST00000369977.8:c.3498_3506del MANE Select | ENSP00000358994.3:p.Gln1167_Arg1169del | |
| ENST00000369985.9:c.3429_3437del | ENSP00000359002.3:p.Gln1144_Arg1146del | |
| ENST00000664640.1:c.3525_3533del | ENSP00000499278.1:p.Gln1176_Arg1178del | |
| ENST00000671923.1:c.*1509_*1517del | ENSP00000500835.1:n.*1509_*1517del | |
| ENST00000672093.1:c.3498_3506del | ENSP00000500710.1:p.Gln1167_Arg1169del | |
| ENST00000672162.1:n.1664_1672del | ||
| ENST00000369975.5:c.3402_3410del | ENSP00000358992.1:p.Gln1135_Arg1137del | |
| ENST00000369977.7:c.3498_3506del | ENSP00000358994.3:p.Gln1167_Arg1169del | |
| ENST00000369981.7:c.3528_3536del | ENSP00000358998.4:p.Gln1177_Arg1179del | |
| ENST00000369985.8:c.3429_3437del | ENSP00000359002.3:p.Gln1144_Arg1146del | |
| ENST00000615563.4:c.3429_3437del | ENSP00000478013.1:p.Gln1144_Arg1146del | |
| ENST00000627432.2:c.3525_3533del | ENSP00000487348.1:p.Gln1176_Arg1178del | |
| NM_001300899.1:c.3429_3437del | NP_001287828.1:p.Gln1144_Arg1146del | |
| NM_004999.3:c.3498_3506del | NP_004990.3:p.Gln1167_Arg1169del | |
| XM_005248719.2:c.3525_3533del | XP_005248776.1:p.Gln1176_Arg1178del | |
| XM_005248720.2:c.3498_3506del | XP_005248777.1:p.Gln1167_Arg1169del | |
| XM_005248721.2:c.3486_3494del | XP_005248778.1:p.Gln1163_Arg1165del | |
| XM_005248722.2:c.3471_3479del | XP_005248779.1:p.Gln1158_Arg1160del | |
| XM_005248724.2:c.3459_3467del | XP_005248781.1:p.Gln1154_Arg1156del | |
| XM_005248726.2:c.3402_3410del | XP_005248783.1:p.Gln1135_Arg1137del | |
| XM_005248719.4:c.3525_3533del | XP_005248776.1:p.Gln1176_Arg1178del | |
| XM_005248720.4:c.3498_3506del | XP_005248777.1:p.Gln1167_Arg1169del | |
| XM_005248721.4:c.3486_3494del | XP_005248778.1:p.Gln1163_Arg1165del | |
| XM_005248722.4:c.3471_3479del | XP_005248779.1:p.Gln1158_Arg1160del | |
| XM_005248724.4:c.3459_3467del | XP_005248781.1:p.Gln1154_Arg1156del | |
| XM_005248726.4:c.3402_3410del | XP_005248783.1:p.Gln1135_Arg1137del | |
| XM_017010899.2:c.3432_3440del | XP_016866388.1:p.Gln1145_Arg1147del | |
| XM_024446447.1:c.3525_3533del | XP_024302215.1:p.Gln1176_Arg1178del | |
| XM_024446448.1:c.3459_3467del | XP_024302216.1:p.Gln1154_Arg1156del | |
| NM_004999.4:c.3498_3506del MANE Select | NP_004990.3:p.Gln1167_Arg1169del | |
| NM_001300899.2:c.3429_3437del | NP_001287828.1:p.Gln1144_Arg1146del | |
| NM_001368136.1:c.3402_3410del | NP_001355065.1:p.Gln1135_Arg1137del | |
| NM_001368137.1:c.3459_3467del | NP_001355066.1:p.Gln1154_Arg1156del | |
| NM_001368138.1:c.3414_3422del | NP_001355067.1:p.Gln1139_Arg1141del | |
| NM_001368865.1:c.3525_3533del | NP_001355794.1:p.Gln1176_Arg1178del | |
| NM_001368866.1:c.3498_3506del | NP_001355795.1:p.Gln1167_Arg1169del | |
| NR_160538.1:n.3727_3735del |