Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80011357_80011358delinsAT , CM000669.2:g.80011357_80011358delinsAT | GRCh38 |
| NC_000007.13:g.79640673_79640674delinsAT , CM000669.1:g.79640673_79640674delinsAT | GRCh37 |
| NC_000007.12:g.79478609_79478610delinsAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649225.1:c.-337+54291_-337+54292delinsAT | ENSP00000496829.1:n.-337+54291_-337+54292delinsAT |