Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781663_94781665delinsCAG , CM000672.2:g.94781663_94781665delinsCAG | GRCh38 |
| NC_000010.10:g.96541420_96541422delinsCAG , CM000672.1:g.96541420_96541422delinsCAG | GRCh37 |
| NC_000010.9:g.96531410_96531412delinsCAG | NCBI36 |
| NG_008384.2:g.23958_23960delinsCAG | |
| NG_008384.3:g.23983_23985delinsCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.643-158_643-156delinsCAG MANE Select | ENSP00000360372.3:n.643-158_643-156delinsCAG | |
| ENST00000645461.1:n.1696-158_1696-156delinsCAG | ||
| ENST00000371321.7:c.643-158_643-156delinsCAG | ENSP00000360372.3:n.643-158_643-156delinsCAG | |
| ENST00000464755.1:c.1406-158_1406-156delinsCAG | ENSP00000483243.1:n.1406-158_1406-156delinsCAG | |
| NM_000769.2:c.643-158_643-156delinsCAG | NP_000760.1:n.643-158_643-156delinsCAG | |
| NM_000769.4:c.643-158_643-156delinsCAG MANE Select | NP_000760.1:n.643-158_643-156delinsCAG |