Linked Data
dbSNP Id:
rs1282202097
gnomAD v2:
16-68772232-C-CTTTTTTAA
gnomAD v3:
16-68738329-C-CTTTTTTAA
gnomAD v4:
16-68738329-C-CTTTTTTAA
MyVariant Identifiers:
chr16:g.68772232_68772233insTTTTTTAA (hg19)
chr16:g.68738329_68738330insTTTTTTAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68738330_68738331insTTTTTAAT , CM000678.2:g.68738330_68738331insTTTTTAAT | GRCh38 |
| NC_000016.9:g.68772233_68772234insTTTTTAAT , CM000678.1:g.68772233_68772234insTTTTTAAT | GRCh37 |
| NC_000016.8:g.67329734_67329735insTTTTTAAT | NCBI36 |
| NG_008021.1:g.6039_6040insTTTTTAAT , LRG_301:g.6039_6040insTTTTTAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.82_83insTTTTTAAT MANE Select | ENSP00000261769.4:p.Cys28PhefsTer31 | |
| ENST00000261769.9:c.82_83insTTTTTAAT | ENSP00000261769.4:p.Cys28PhefsTer31 | |
| ENST00000422392.6:c.82_83insTTTTTAAT | ENSP00000414946.2:p.Cys28PhefsTer31 | |
| ENST00000566510.5:c.82_83insTTTTTAAT | ENSP00000458139.1:p.Cys28PhefsTer31 | |
| ENST00000566612.5:c.82_83insTTTTTAAT | ENSP00000454782.1:p.Cys28PhefsTer31 | |
| ENST00000611625.4:c.82_83insTTTTTAAT | ENSP00000481063.1:p.Cys28PhefsTer31 | |
| ENST00000612417.4:c.82_83insTTTTTAAT | ENSP00000478360.1:p.Cys28PhefsTer31 | |
| ENST00000621016.4:c.82_83insTTTTTAAT | ENSP00000480664.1:p.Cys28PhefsTer31 | |
| NM_004360.3:c.82_83insTTTTTAAT , LRG_301t1:c.82_83insTTTTTAAT | NP_004351.1:p.Cys28PhefsTer31 | |
| NM_001317184.1:c.82_83insTTTTTAAT | NP_001304113.1:p.Cys28PhefsTer31 | |
| NM_001317185.1:c.-1534_-1533insTTTTTAAT | NP_001304114.1:n.-1534_-1533insTTTTTAAT | |
| NM_001317186.1:c.-1738_-1737insTTTTTAAT | NP_001304115.1:n.-1738_-1737insTTTTTAAT | |
| NM_004360.4:c.82_83insTTTTTAAT | NP_004351.1:p.Cys28PhefsTer31 | |
| NM_004360.5:c.82_83insTTTTTAAT MANE Select | NP_004351.1:p.Cys28PhefsTer31 | |
| NM_001317184.2:c.82_83insTTTTTAAT | NP_001304113.1:p.Cys28PhefsTer31 | |
| NM_001317185.2:c.-1534_-1533insTTTTTAAT | NP_001304114.1:n.-1534_-1533insTTTTTAAT | |
| NM_001317186.2:c.-1738_-1737insTTTTTAAT | NP_001304115.1:n.-1738_-1737insTTTTTAAT |