Linked Data
dbSNP Id:
rs1567471609
gnomAD v2:
16-68772403-A-ATT
gnomAD v3:
16-68738500-A-ATT
gnomAD v4:
16-68738500-A-ATT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68738501_68738502insTT , CM000678.2:g.68738501_68738502insTT | GRCh38 |
| NC_000016.9:g.68772404_68772405insTT , CM000678.1:g.68772404_68772405insTT | GRCh37 |
| NC_000016.8:g.67329905_67329906insTT | NCBI36 |
| NG_008021.1:g.6210_6211insTT , LRG_301:g.6210_6211insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.163+90_163+91insTT MANE Select | ENSP00000261769.4:n.163+90_163+91insTT | |
| ENST00000261769.9:c.163+90_163+91insTT | ENSP00000261769.4:n.163+90_163+91insTT | |
| ENST00000422392.6:c.163+90_163+91insTT | ENSP00000414946.2:n.163+90_163+91insTT | |
| ENST00000566510.5:c.163+90_163+91insTT | ENSP00000458139.1:n.163+90_163+91insTT | |
| ENST00000566612.5:c.163+90_163+91insTT | ENSP00000454782.1:n.163+90_163+91insTT | |
| ENST00000611625.4:c.163+90_163+91insTT | ENSP00000481063.1:n.163+90_163+91insTT | |
| ENST00000612417.4:c.163+90_163+91insTT | ENSP00000478360.1:n.163+90_163+91insTT | |
| ENST00000621016.4:c.163+90_163+91insTT | ENSP00000480664.1:n.163+90_163+91insTT | |
| NM_004360.3:c.163+90_163+91insTT , LRG_301t1:c.163+90_163+91insTT | NP_004351.1:n.163+90_163+91insTT | |
| NM_001317184.1:c.163+90_163+91insTT | NP_001304113.1:n.163+90_163+91insTT | |
| NM_001317185.1:c.-1453+90_-1453+91insTT | NP_001304114.1:n.-1453+90_-1453+91insTT | |
| NM_001317186.1:c.-1657+90_-1657+91insTT | NP_001304115.1:n.-1657+90_-1657+91insTT | |
| NM_004360.4:c.163+90_163+91insTT | NP_004351.1:n.163+90_163+91insTT | |
| NM_004360.5:c.163+90_163+91insTT MANE Select | NP_004351.1:n.163+90_163+91insTT | |
| NM_001317184.2:c.163+90_163+91insTT | NP_001304113.1:n.163+90_163+91insTT | |
| NM_001317185.2:c.-1453+90_-1453+91insTT | NP_001304114.1:n.-1453+90_-1453+91insTT | |
| NM_001317186.2:c.-1657+90_-1657+91insTT | NP_001304115.1:n.-1657+90_-1657+91insTT |