Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373155_133373156delinsGT , CM000672.2:g.133373155_133373156delinsGT | GRCh38 |
| NC_000010.10:g.135186659_135186660delinsGT , CM000672.1:g.135186659_135186660delinsGT | GRCh37 |
| NC_000010.9:g.135036649_135036650delinsGT | NCBI36 |
| NG_042077.1:g.5249_5250delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.88+90_88+91delinsAC MANE Select | ENSP00000357535.3:n.88+90_88+91delinsAC | |
| ENST00000368547.3:c.88+90_88+91delinsAC | ENSP00000357535.3:n.88+90_88+91delinsAC | |
| NM_004092.3:c.88+90_88+91delinsAC | NP_004083.3:n.88+90_88+91delinsAC | |
| XR_002956965.1:n.151+90_151+91delinsAC | ||
| NM_004092.4:c.88+90_88+91delinsAC MANE Select | NP_004083.3:n.88+90_88+91delinsAC |