Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157110439_157110440delinsAT , CM000667.2:g.157110439_157110440delinsAT | GRCh38 |
| NC_000005.9:g.156537450_156537451delinsAT , CM000667.1:g.156537450_156537451delinsAT | GRCh37 |
| NC_000005.8:g.156470028_156470029delinsAT | NCBI36 |
| NG_030444.1:g.3798_3799delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524219.2:c.-293-3478_-293-3477delinsAT | ENSP00000430328.2:n.-293-3478_-293-3477delinsAT | |
| ENST00000696899.1:c.-264-1193_-264-1192delinsAT | ENSP00000512960.1:n.-264-1193_-264-1192delinsAT | |
| ENST00000524219.1:c.-293-3478_-293-3477delinsAT | ENSP00000430328.1:n.-293-3478_-293-3477delinsAT |