Linked Data
dbSNP Id:
rs1416203673
gnomAD v2:
12-48366800-T-TTTTTGTTGATTAA
gnomAD v3:
12-47973017-T-TTTTTGTTGATTAA
gnomAD v4:
12-47973017-T-TTTTTGTTGATTAA
MyVariant Identifiers:
chr12:g.48366800_48366801insTTTTGTTGATTAA (hg19)
chr12:g.47973017_47973018insTTTTGTTGATTAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47973017_47973018insTTTTGTTGATTAA , CM000674.2:g.47973017_47973018insTTTTGTTGATTAA | GRCh38 |
| NC_000012.11:g.48366800_48366801insTTTTGTTGATTAA , CM000674.1:g.48366800_48366801insTTTTGTTGATTAA | GRCh37 |
| NC_000012.10:g.46653067_46653068insTTTTGTTGATTAA | NCBI36 |
| NG_008072.1:g.36485_36486insTTAATCAACAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380518.8:c.*389_*390insTTAATCAACAAAA MANE Select | ENSP00000369889.3:n.*389_*390insTTAATCAACAAAA | |
| ENST00000380518.7:c.*389_*390insTTAATCAACAAAA | ENSP00000369889.3:n.*389_*390insTTAATCAACAAAA | |
| NM_001844.4:c.*389_*390insTTAATCAACAAAA | NP_001835.3:n.*389_*390insTTAATCAACAAAA | |
| NM_033150.2:c.*389_*390insTTAATCAACAAAA | NP_149162.2:n.*389_*390insTTAATCAACAAAA | |
| XM_006719242.2:c.*389_*390insTTAATCAACAAAA | XP_006719305.2:n.*389_*390insTTAATCAACAAAA | |
| XM_011537928.1:c.*389_*390insTTAATCAACAAAA | XP_011536230.1:n.*389_*390insTTAATCAACAAAA | |
| XM_011537929.1:c.*389_*390insTTAATCAACAAAA | XP_011536231.1:n.*389_*390insTTAATCAACAAAA | |
| XM_011537930.1:c.*389_*390insTTAATCAACAAAA | XP_011536232.1:n.*389_*390insTTAATCAACAAAA | |
| XM_011537931.1:c.*389_*390insTTAATCAACAAAA | XP_011536233.1:n.*389_*390insTTAATCAACAAAA | |
| XM_011537932.1:c.*389_*390insTTAATCAACAAAA | XP_011536234.1:n.*389_*390insTTAATCAACAAAA | |
| XM_011537933.1:c.*389_*390insTTAATCAACAAAA | XP_011536235.1:n.*389_*390insTTAATCAACAAAA | |
| XM_011537934.1:c.*389_*390insTTAATCAACAAAA | XP_011536236.1:n.*389_*390insTTAATCAACAAAA | |
| XM_011537935.1:c.*389_*390insTTAATCAACAAAA | XP_011536237.1:n.*389_*390insTTAATCAACAAAA | |
| XM_017018828.1:c.*389_*390insTTAATCAACAAAA | XP_016874317.1:n.*389_*390insTTAATCAACAAAA | |
| XM_017018829.1:c.*389_*390insTTAATCAACAAAA | XP_016874318.1:n.*389_*390insTTAATCAACAAAA | |
| XM_017018830.1:c.*389_*390insTTAATCAACAAAA | XP_016874319.1:n.*389_*390insTTAATCAACAAAA | |
| XM_017018831.2:c.*389_*390insTTAATCAACAAAA | XP_016874320.1:n.*389_*390insTTAATCAACAAAA | |
| NM_001844.5:c.*389_*390insTTAATCAACAAAA MANE Select | NP_001835.3:n.*389_*390insTTAATCAACAAAA | |
| NM_033150.3:c.*389_*390insTTAATCAACAAAA | NP_149162.2:n.*389_*390insTTAATCAACAAAA |