dbSNP:
gnomAD v4:
Joint Max Group AF
0.0009326 (EAS)
Exomes Max Group AF
0.00149386 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29830804_29830805insATTTGT , CM000668.2:g.29830804_29830805insATTTGT | GRCh38 |
| NC_000006.11:g.29798581_29798582insATTTGT , CM000668.1:g.29798581_29798582insATTTGT | GRCh37 |
| NC_000006.10:g.29906560_29906561insATTTGT | NCBI36 |
| NG_029039.1:g.8826_8827insATTTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360323.11:c.*65_*66insATTTGT MANE Select | ENSP00000353472.6:n.*65_*66insATTTGT | |
| ENST00000360323.10:c.*65_*66insATTTGT | ENSP00000353472.6:n.*65_*66insATTTGT | |
| ENST00000376815.3:c.530_531insATTTGT | ENSP00000366011.3:n.530_531insATTTGT | |
| ENST00000376818.7:c.806_807insATTTGT | ENSP00000366014.3:n.806_807insATTTGT | |
| ENST00000376828.6:c.*65_*66insATTTGT | ENSP00000366024.2:n.*65_*66insATTTGT | |
| ENST00000428701.5:c.*65_*66insATTTGT | ENSP00000412927.1:n.*65_*66insATTTGT | |
| ENST00000478355.5:n.1204_1205insATTTGT | ||
| ENST00000478519.5:c.854_855insATTTGT | ENSP00000436375.1:n.854_855insATTTGT | |
| NM_002127.5:c.*65_*66insATTTGT | NP_002118.1:n.*65_*66insATTTGT | |
| NM_001363567.1:c.*65_*66insATTTGT | NP_001350496.1:n.*65_*66insATTTGT | |
| XM_017010817.1:c.*65_*66insATTTGT | XP_016866306.1:n.*65_*66insATTTGT | |
| NM_001363567.2:c.*65_*66insATTTGT | NP_001350496.1:n.*65_*66insATTTGT | |
| NM_001384280.1:c.*65_*66insATTTGT | NP_001371209.1:n.*65_*66insATTTGT | |
| NM_001384290.1:c.*65_*66insATTTGT MANE Select | NP_001371219.1:n.*65_*66insATTTGT | |
| NM_002127.6:c.*65_*66insATTTGT | NP_002118.1:n.*65_*66insATTTGT |