Linked Data
dbSNP Id:
rs1565669538
gnomAD v2:
12-48370856-G-GGAT
gnomAD v3:
12-47977073-G-GGAT
gnomAD v4:
12-47977073-G-GGAT
MyVariant Identifiers:
chr12:g.48370856_48370857insGAT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47977073_47977074insGAT , CM000674.2:g.47977073_47977074insGAT | GRCh38 |
| NC_000012.11:g.48370856_48370857insGAT , CM000674.1:g.48370856_48370857insGAT | GRCh37 |
| NC_000012.10:g.46657123_46657124insGAT | NCBI36 |
| NG_008072.1:g.32429_32430insATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.3120+28_3120+29insATC | ENSP00000338213.6:n.3120+28_3120+29insATC | |
| ENST00000380518.8:c.3327+28_3327+29insATC MANE Select | ENSP00000369889.3:n.3327+28_3327+29insATC | |
| ENST00000337299.6:c.3120+28_3120+29insATC | ENSP00000338213.6:n.3120+28_3120+29insATC | |
| ENST00000380518.7:c.3327+28_3327+29insATC | ENSP00000369889.3:n.3327+28_3327+29insATC | |
| ENST00000493991.5:n.2413+28_2413+29insATC | ||
| ENST00000546974.1:n.180+28_180+29insATC | ||
| NM_001844.4:c.3327+28_3327+29insATC | NP_001835.3:n.3327+28_3327+29insATC | |
| NM_033150.2:c.3120+28_3120+29insATC | NP_149162.2:n.3120+28_3120+29insATC | |
| XM_006719242.2:c.3471+28_3471+29insATC | XP_006719305.2:n.3471+28_3471+29insATC | |
| XM_011537928.1:c.3471+28_3471+29insATC | XP_011536230.1:n.3471+28_3471+29insATC | |
| XM_011537929.1:c.3471+28_3471+29insATC | XP_011536231.1:n.3471+28_3471+29insATC | |
| XM_011537930.1:c.3471+28_3471+29insATC | XP_011536232.1:n.3471+28_3471+29insATC | |
| XM_011537931.1:c.3471+28_3471+29insATC | XP_011536233.1:n.3471+28_3471+29insATC | |
| XM_011537932.1:c.3471+28_3471+29insATC | XP_011536234.1:n.3471+28_3471+29insATC | |
| XM_011537933.1:c.3471+28_3471+29insATC | XP_011536235.1:n.3471+28_3471+29insATC | |
| XM_011537934.1:c.3468+28_3468+29insATC | XP_011536236.1:n.3468+28_3468+29insATC | |
| XM_011537935.1:c.2415+28_2415+29insATC | XP_011536237.1:n.2415+28_2415+29insATC | |
| XM_017018828.1:c.3471+28_3471+29insATC | XP_016874317.1:n.3471+28_3471+29insATC | |
| XM_017018829.1:c.3468+28_3468+29insATC | XP_016874318.1:n.3468+28_3468+29insATC | |
| XM_017018830.1:c.3261+28_3261+29insATC | XP_016874319.1:n.3261+28_3261+29insATC | |
| XM_017018831.2:c.2781+28_2781+29insATC | XP_016874320.1:n.2781+28_2781+29insATC | |
| NM_001844.5:c.3327+28_3327+29insATC MANE Select | NP_001835.3:n.3327+28_3327+29insATC | |
| NM_033150.3:c.3120+28_3120+29insATC | NP_149162.2:n.3120+28_3120+29insATC |