Linked Data
dbSNP Id:
rs1960530321
gnomAD v3:
16-68801970-G-GTTGACA
gnomAD v4:
16-68801970-G-GTTGACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68801973_68801978dup , CM000678.2:g.68801973_68801978dup | GRCh38 |
| NC_000016.9:g.68835876_68835881dup , CM000678.1:g.68835876_68835881dup | GRCh37 |
| NC_000016.8:g.67393377_67393382dup | NCBI36 |
| NG_008021.1:g.69682_69687dup , LRG_301:g.69682_69687dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.387+80_387+85dup MANE Select | ENSP00000261769.4:n.387+80_387+85dup | |
| ENST00000261769.9:c.387+80_387+85dup | ENSP00000261769.4:n.387+80_387+85dup | |
| ENST00000422392.6:c.387+80_387+85dup | ENSP00000414946.2:n.387+80_387+85dup | |
| ENST00000561751.1:c.154+80_154+85dup | ||
| ENST00000562836.5:n.458+80_458+85dup | ||
| ENST00000564676.5:n.669+80_669+85dup | ||
| ENST00000564745.1:n.382+80_382+85dup | ||
| ENST00000566510.5:c.387+80_387+85dup | ENSP00000458139.1:n.387+80_387+85dup | |
| ENST00000566612.5:c.387+80_387+85dup | ENSP00000454782.1:n.387+80_387+85dup | |
| ENST00000611625.4:c.387+80_387+85dup | ENSP00000481063.1:n.387+80_387+85dup | |
| ENST00000612417.4:c.387+80_387+85dup | ENSP00000478360.1:n.387+80_387+85dup | |
| ENST00000621016.4:c.387+80_387+85dup | ENSP00000480664.1:n.387+80_387+85dup | |
| NM_004360.3:c.387+80_387+85dup , LRG_301t1:c.387+80_387+85dup | NP_004351.1:n.387+80_387+85dup | |
| XM_011523488.1:c.-349+80_-349+85dup | XP_011521790.1:n.-349+80_-349+85dup | |
| XM_011523489.1:c.-349+80_-349+85dup | XP_011521791.1:n.-349+80_-349+85dup | |
| NM_001317184.1:c.387+80_387+85dup | NP_001304113.1:n.387+80_387+85dup | |
| NM_001317185.1:c.-1229+80_-1229+85dup | NP_001304114.1:n.-1229+80_-1229+85dup | |
| NM_001317186.1:c.-1433+80_-1433+85dup | NP_001304115.1:n.-1433+80_-1433+85dup | |
| NM_004360.4:c.387+80_387+85dup | NP_004351.1:n.387+80_387+85dup | |
| NM_004360.5:c.387+80_387+85dup MANE Select | NP_004351.1:n.387+80_387+85dup | |
| NM_001317184.2:c.387+80_387+85dup | NP_001304113.1:n.387+80_387+85dup | |
| NM_001317185.2:c.-1229+80_-1229+85dup | NP_001304114.1:n.-1229+80_-1229+85dup | |
| NM_001317186.2:c.-1433+80_-1433+85dup | NP_001304115.1:n.-1433+80_-1433+85dup |