Linked Data
dbSNP Id:
rs933883313
gnomAD v2:
6-139694137-GTTTAC-G
gnomAD v3:
6-139373000-GTTTAC-G
gnomAD v4:
6-139373000-GTTTAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373004_139373008del , CM000668.2:g.139373004_139373008del | GRCh38 |
| NC_000006.11:g.139694141_139694145del , CM000668.1:g.139694141_139694145del | GRCh37 |
| NC_000006.10:g.139735834_139735838del | NCBI36 |
| NG_016169.1:g.6644_6648del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.*127_*131del MANE Select | ENSP00000356623.2:n.*127_*131del | |
| ENST00000367651.3:c.*127_*131del | ENSP00000356623.2:n.*127_*131del | |
| ENST00000536159.2:c.*127_*131del | ENSP00000442831.1:n.*127_*131del | |
| ENST00000537332.2:c.*127_*131del | ENSP00000444198.2:n.*127_*131del | |
| NM_001168388.2:c.*127_*131del | NP_001161860.1:n.*127_*131del | |
| NM_001168389.2:c.*127_*131del | NP_001161861.2:n.*127_*131del | |
| NM_006079.4:c.*127_*131del | NP_006070.2:n.*127_*131del | |
| NM_006079.5:c.*127_*131del MANE Select | NP_006070.2:n.*127_*131del | |
| NM_001168388.3:c.*127_*131del | NP_001161860.1:n.*127_*131del | |
| NM_001168389.3:c.*127_*131del | NP_001161861.2:n.*127_*131del |