Linked Data
dbSNP Id:
rs756787827
ExAC:
6:139694505 CGCT / C
gnomAD v2:
6-139694505-CGCT-C
gnomAD v3:
6-139373368-CGCT-C
gnomAD v4:
6-139373368-CGCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373370_139373372del , CM000668.2:g.139373370_139373372del | GRCh38 |
| NC_000006.11:g.139694507_139694509del , CM000668.1:g.139694507_139694509del | GRCh37 |
| NC_000006.10:g.139736200_139736202del | NCBI36 |
| NG_016169.1:g.6278_6280del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.574_576del MANE Select | ENSP00000356623.2:p.Ser192del | |
| ENST00000367651.3:c.574_576del | ENSP00000356623.2:p.Ser192del | |
| ENST00000536159.2:c.574_576del | ENSP00000442831.1:p.Ser192del | |
| ENST00000537332.2:c.589_591del | ENSP00000444198.2:p.Ser197del | |
| ENST00000618718.1:c.477-74_477-72del | ENSP00000479918.1:n.477-74_477-72del | |
| NM_001168388.2:c.574_576del | NP_001161860.1:p.Ser192del | |
| NM_001168389.2:c.589_591del | NP_001161861.2:p.Ser197del | |
| NM_006079.4:c.574_576del | NP_006070.2:p.Ser192del | |
| NM_006079.5:c.574_576del MANE Select | NP_006070.2:p.Ser192del | |
| NM_001168388.3:c.574_576del | NP_001161860.1:p.Ser192del | |
| NM_001168389.3:c.589_591del | NP_001161861.2:p.Ser197del |