Linked Data
dbSNP Id:
rs1383533455
gnomAD v3:
1-112913703-CATTCCCTCCTCAA-C
gnomAD v4:
1-112913703-CATTCCCTCCTCAA-C
MyVariant Identifiers:
chr1:g.112913704_112913716del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112913708_112913720del , CM000663.2:g.112913708_112913720del | GRCh38 |
| NC_000001.10:g.113456330_113456342del , CM000663.1:g.113456330_113456342del | GRCh37 |
| NC_000001.9:g.113257853_113257865del | NCBI36 |
| NG_015880.2:g.47213_47225del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369626.8:c.*175_*187del MANE Select | ENSP00000358640.4:n.*175_*187del | |
| ENST00000429288.2:c.*175_*187del | ENSP00000397106.2:n.*175_*187del | |
| ENST00000443580.6:c.*175_*187del | ENSP00000399104.2:n.*175_*187del | |
| ENST00000458229.6:c.*175_*187del | ENSP00000416167.2:n.*175_*187del | |
| ENST00000679803.1:c.*175_*187del | ENSP00000505879.1:n.*175_*187del | |
| ENST00000369626.7:c.*175_*187del | ENSP00000358640.3:n.*175_*187del | |
| ENST00000538576.5:c.*175_*187del | ENSP00000441065.1:n.*175_*187del | |
| NM_001166496.1:c.*175_*187del | NP_001159968.1:n.*175_*187del | |
| NM_003051.3:c.*175_*187del | NP_003042.3:n.*175_*187del | |
| XM_011542026.1:c.*175_*187del | XP_011540328.1:n.*175_*187del | |
| XM_011542027.1:c.*175_*187del | XP_011540329.1:n.*175_*187del | |
| NM_003051.4:c.*175_*187del MANE Select | NP_003042.3:n.*175_*187del | |
| NM_001166496.2:c.*175_*187del | NP_001159968.1:n.*175_*187del |