Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.19626802_19626803delinsGT , CM000674.2:g.19626802_19626803delinsGT | GRCh38 |
| NC_000012.11:g.19779736_19779737delinsGT , CM000674.1:g.19779736_19779737delinsGT | GRCh37 |
| NC_000012.10:g.19671003_19671004delinsGT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512223.6:c.339-93831_339-93830delinsGT | ENSP00000445587.1:n.339-93831_339-93830delinsGT | |
| XR_242921.2:n.252+23489_252+23490delinsGT | ||
| XR_931408.1:n.76+796_76+797delinsGT | ||
| XR_001749034.2:n.472-23594_472-23593delinsGT | ||
| XR_001749035.1:n.525+23489_525+23490delinsGT | ||
| XR_001749036.1:n.526-22896_526-22895delinsGT | ||
| XR_001749037.1:n.275+23489_275+23490delinsGT | ||
| XR_002957408.1:n.133+796_133+797delinsGT |