Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23393507_23393508insAGAAT , CM000685.2:g.23393507_23393508insAGAAT | GRCh38 |
| NC_000023.10:g.23411624_23411625insAGAAT , CM000685.1:g.23411624_23411625insAGAAT | GRCh37 |
| NC_000023.9:g.23321545_23321546insAGAAT | NCBI36 |
| NG_021300.1:g.63640_63641insAGAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379361.5:c.1989_1990insAGAAT MANE Select | ENSP00000368666.4:p.Leu664ArgfsTer7 | |
| ENST00000379361.4:c.1989_1990insAGAAT | ENSP00000368666.4:p.Leu664ArgfsTer7 | |
| NM_173495.2:c.1989_1990insAGAAT | NP_775766.2:p.Leu664ArgfsTer7 | |
| XM_011545449.1:c.1989_1990insAGAAT | XP_011543751.1:p.Leu664ArgfsTer7 | |
| XM_011545449.3:c.1989_1990insAGAAT | XP_011543751.1:p.Leu664ArgfsTer7 | |
| NM_173495.3:c.1989_1990insAGAAT MANE Select | NP_775766.2:p.Leu664ArgfsTer7 |