Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493423_74493424delinsGC , CM000676.2:g.74493423_74493424delinsGC | GRCh38 |
| NC_000014.8:g.74960126_74960127delinsGC , CM000676.1:g.74960126_74960127delinsGC | GRCh37 |
| NC_000014.7:g.74029879_74029880delinsGC | NCBI36 |
| NG_007117.1:g.4958_4959delinsGC | |
| NG_033074.1:g.4704_4705delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-63-87_-63-86delinsGC | ENSP00000450887.1:n.-63-87_-63-86delinsGC | |
| ENST00000555619.5:c.-150_-149delinsGC | ENSP00000451112.1:n.-150_-149delinsGC | |
| ENST00000556009.5:c.147+607_147+608delinsGC | ||
| NM_001363688.1:c.-150_-149delinsGC | NP_001350617.1:n.-150_-149delinsGC | |
| NM_006432.4:c.-150_-149delinsGC | NP_006423.1:n.-150_-149delinsGC |