Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11491408_11491410delinsTGT , CM000670.2:g.11491408_11491410delinsTGT | GRCh38 |
| NC_000008.10:g.11348917_11348919delinsTGT , CM000670.1:g.11348917_11348919delinsTGT | GRCh37 |
| NC_000008.9:g.11386326_11386328delinsTGT | NCBI36 |
| NG_023543.1:g.2397_2399delinsTGT | |
| NG_023543.2:g.2397_2399delinsTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.274+4241_274+4243delinsTGT | ||
| ENST00000696154.1:c.-91+4241_-91+4243delinsTGT | ENSP00000512445.1:n.-91+4241_-91+4243delinsTGT | |
| ENST00000645242.1:c.-91+4241_-91+4243delinsTGT | ENSP00000494690.1:n.-91+4241_-91+4243delinsTGT |