Linked Data
gnomAD v2:
12-48238984-A-AGGAT
MyVariant Identifiers:
chr12:g.48238984_48238985insGGAT (hg19)
chr12:g.47845201_47845202insGGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47845201_47845202insGGAT , CM000674.2:g.47845201_47845202insGGAT | GRCh38 |
| NC_000012.11:g.48238984_48238985insGGAT , CM000674.1:g.48238984_48238985insGGAT | GRCh37 |
| NC_000012.10:g.46525251_46525252insGGAT | NCBI36 |
| NG_008731.1:g.64830_64831insATCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229022.9:c.1025-197_1025-196insATCC | ENSP00000229022.5:n.1025-197_1025-196insATCC | |
| ENST00000549336.6:c.1025-197_1025-196insATCC MANE Select | ENSP00000449573.2:n.1025-197_1025-196insATCC | |
| ENST00000229022.7:c.1025-197_1025-196insATCC | ENSP00000229022.3:n.1025-197_1025-196insATCC | |
| ENST00000395324.6:c.1025-197_1025-196insATCC | ENSP00000378734.2:n.1025-197_1025-196insATCC | |
| ENST00000547065.1:c.*1027-197_*1027-196insATCC | ENSP00000449074.1:n.*1027-197_*1027-196insATCC | |
| ENST00000549336.5:c.1025-197_1025-196insATCC | ENSP00000449573.1:n.1025-197_1025-196insATCC | |
| ENST00000550325.5:c.1175-197_1175-196insATCC | ENSP00000447173.1:n.1175-197_1175-196insATCC | |
| NM_000376.2:c.1025-197_1025-196insATCC | NP_000367.1:n.1025-197_1025-196insATCC | |
| NM_001017535.1:c.1025-197_1025-196insATCC | NP_001017535.1:n.1025-197_1025-196insATCC | |
| NM_001017536.1:c.1175-197_1175-196insATCC | NP_001017536.1:n.1175-197_1175-196insATCC | |
| XM_006719587.2:c.1025-197_1025-196insATCC | XP_006719650.1:n.1025-197_1025-196insATCC | |
| XM_011538720.1:c.1025-197_1025-196insATCC | XP_011537022.1:n.1025-197_1025-196insATCC | |
| NM_001364085.1:c.1025-197_1025-196insATCC | NP_001351014.1:n.1025-197_1025-196insATCC | |
| XM_006719587.3:c.1025-197_1025-196insATCC | XP_006719650.1:n.1025-197_1025-196insATCC | |
| XM_011538720.2:c.1025-197_1025-196insATCC | XP_011537022.1:n.1025-197_1025-196insATCC | |
| XM_024449178.1:c.1094-197_1094-196insATCC | XP_024304946.1:n.1094-197_1094-196insATCC | |
| NM_000376.3:c.1025-197_1025-196insATCC MANE Select | NP_000367.1:n.1025-197_1025-196insATCC | |
| NM_001017535.2:c.1025-197_1025-196insATCC | NP_001017535.1:n.1025-197_1025-196insATCC | |
| NM_001017536.2:c.1175-197_1175-196insATCC | NP_001017536.1:n.1175-197_1175-196insATCC | |
| NM_001364085.2:c.1025-197_1025-196insATCC | NP_001351014.1:n.1025-197_1025-196insATCC | |
| NM_001374661.1:c.1025-197_1025-196insATCC | NP_001361590.1:n.1025-197_1025-196insATCC | |
| NM_001374662.1:c.1025-197_1025-196insATCC | NP_001361591.1:n.1025-197_1025-196insATCC |