Linked Data
dbSNP Id:
rs1332485427
gnomAD v2:
6-139694498-CCGCCGCCGCTGTTGCTGCTGCCCG-C
gnomAD v3:
6-139373361-CCGCCGCCGCTGTTGCTGCTGCCCG-C
gnomAD v4:
6-139373361-CCGCCGCCGCTGTTGCTGCTGCCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373371_139373394del , CM000668.2:g.139373371_139373394del | GRCh38 |
| NC_000006.11:g.139694508_139694531del , CM000668.1:g.139694508_139694531del | GRCh37 |
| NC_000006.10:g.139736201_139736224del | NCBI36 |
| NG_016169.1:g.6264_6287del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.560_583del MANE Select | ENSP00000356623.2:p.Ala187_Gly194del | |
| ENST00000367651.3:c.560_583del | ENSP00000356623.2:p.Ala187_Gly194del | |
| ENST00000536159.2:c.560_583del | ENSP00000442831.1:p.Ala187_Gly194del | |
| ENST00000537332.2:c.575_598del | ENSP00000444198.2:p.Ala192_Gly199del | |
| ENST00000618718.1:c.476+84_477-65del | ENSP00000479918.1:n.476+84_477-65del | |
| NM_001168388.2:c.560_583del | NP_001161860.1:p.Ala187_Gly194del | |
| NM_001168389.2:c.575_598del | NP_001161861.2:p.Ala192_Gly199del | |
| NM_006079.4:c.560_583del | NP_006070.2:p.Ala187_Gly194del | |
| NM_006079.5:c.560_583del MANE Select | NP_006070.2:p.Ala187_Gly194del | |
| NM_001168388.3:c.560_583del | NP_001161860.1:p.Ala187_Gly194del | |
| NM_001168389.3:c.575_598del | NP_001161861.2:p.Ala192_Gly199del |