Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493592_74493593insAA , CM000676.2:g.74493592_74493593insAA | GRCh38 |
| NC_000014.8:g.74960295_74960296insAA , CM000676.1:g.74960295_74960296insAA | GRCh37 |
| NC_000014.7:g.74030048_74030049insAA | NCBI36 |
| NG_007117.1:g.4789_4790insTT | |
| NG_033074.1:g.4873_4874insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-87_-86insTT | ENSP00000450887.1:n.-87_-86insTT | |
| ENST00000556009.5:c.147+438_147+439insTT |