Linked Data
dbSNP Id:
rs1778295562
gnomAD v3:
6-139373384-CGCGCCGCCGCCCGAGCTGCTGCCA-C
gnomAD v4:
6-139373384-CGCGCCGCCGCCCGAGCTGCTGCCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373386_139373409del , CM000668.2:g.139373386_139373409del | GRCh38 |
| NC_000006.11:g.139694523_139694546del , CM000668.1:g.139694523_139694546del | GRCh37 |
| NC_000006.10:g.139736216_139736239del | NCBI36 |
| NG_016169.1:g.6241_6264del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.537_560del MANE Select | ENSP00000356623.2:p.Gly180_Ala187del | |
| ENST00000367651.3:c.537_560del | ENSP00000356623.2:p.Gly180_Ala187del | |
| ENST00000536159.2:c.537_560del | ENSP00000442831.1:p.Gly180_Ala187del | |
| ENST00000537332.2:c.552_575del | ENSP00000444198.2:p.Gly185_Ala192del | |
| ENST00000618718.1:c.476+61_476+84del | ENSP00000479918.1:n.476+61_476+84del | |
| NM_001168388.2:c.537_560del | NP_001161860.1:p.Gly180_Ala187del | |
| NM_001168389.2:c.552_575del | NP_001161861.2:p.Gly185_Ala192del | |
| NM_006079.4:c.537_560del | NP_006070.2:p.Gly180_Ala187del | |
| NM_006079.5:c.537_560del MANE Select | NP_006070.2:p.Gly180_Ala187del | |
| NM_001168388.3:c.537_560del | NP_001161860.1:p.Gly180_Ala187del | |
| NM_001168389.3:c.552_575del | NP_001161861.2:p.Gly185_Ala192del |