Linked Data
dbSNP Id:
rs1164753419
gnomAD v2:
1-113456386-A-AAAAT
gnomAD v3:
1-112913764-A-AAAAT
gnomAD v4:
1-112913764-A-AAAAT
MyVariant Identifiers:
chr1:g.113456386_113456387insAAAT (hg19)
chr1:g.112913764_112913765insAAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112913764_112913765insAAAT , CM000663.2:g.112913764_112913765insAAAT | GRCh38 |
| NC_000001.10:g.113456386_113456387insAAAT , CM000663.1:g.113456386_113456387insAAAT | GRCh37 |
| NC_000001.9:g.113257909_113257910insAAAT | NCBI36 |
| NG_015880.2:g.47164_47165insATTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369626.8:c.*126_*127insATTT MANE Select | ENSP00000358640.4:n.*126_*127insATTT | |
| ENST00000429288.2:c.*126_*127insATTT | ENSP00000397106.2:n.*126_*127insATTT | |
| ENST00000443580.6:c.*126_*127insATTT | ENSP00000399104.2:n.*126_*127insATTT | |
| ENST00000458229.6:c.*126_*127insATTT | ENSP00000416167.2:n.*126_*127insATTT | |
| ENST00000679803.1:c.*126_*127insATTT | ENSP00000505879.1:n.*126_*127insATTT | |
| ENST00000369626.7:c.*126_*127insATTT | ENSP00000358640.3:n.*126_*127insATTT | |
| ENST00000538576.5:c.*126_*127insATTT | ENSP00000441065.1:n.*126_*127insATTT | |
| NM_001166496.1:c.*126_*127insATTT | NP_001159968.1:n.*126_*127insATTT | |
| NM_003051.3:c.*126_*127insATTT | NP_003042.3:n.*126_*127insATTT | |
| XM_011542026.1:c.*126_*127insATTT | XP_011540328.1:n.*126_*127insATTT | |
| XM_011542027.1:c.*126_*127insATTT | XP_011540329.1:n.*126_*127insATTT | |
| NM_003051.4:c.*126_*127insATTT MANE Select | NP_003042.3:n.*126_*127insATTT | |
| NM_001166496.2:c.*126_*127insATTT | NP_001159968.1:n.*126_*127insATTT |