Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584089_41584099delinsTTTTTTTTTTG , CM000679.2:g.41584089_41584099delinsTTTTTTTTTTG | GRCh38 |
| NC_000017.10:g.39740341_39740351delinsTTTTTTTTTTG , CM000679.1:g.39740341_39740351delinsTTTTTTTTTTG | GRCh37 |
| NC_000017.9:g.36993867_36993877delinsTTTTTTTTTTG | NCBI36 |
| NG_008624.1:g.7797_7807delinsCAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.765+158_766-168delinsCAAAAAAAAAA MANE Select | ENSP00000167586.6:n.765+158_766-168delinsCAAAAAAAAAA | |
| ENST00000167586.6:c.765+158_766-168delinsCAAAAAAAAAA | ENSP00000167586.6:n.765+158_766-168delinsCAAAAAAAAAA | |
| ENST00000476662.1:n.215+158_216-168delinsCAAAAAAAAAA | ||
| NM_000526.4:c.765+158_766-168delinsCAAAAAAAAAA | NP_000517.2:n.765+158_766-168delinsCAAAAAAAAAA | |
| NM_000526.5:c.765+158_766-168delinsCAAAAAAAAAA MANE Select | NP_000517.3:n.765+158_766-168delinsCAAAAAAAAAA |