Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35797481_35797482insTGTG , CM000668.2:g.35797481_35797482insTGTG | GRCh38 |
| NC_000006.11:g.35765258_35765259insTGTG , CM000668.1:g.35765258_35765259insTGTG | GRCh37 |
| NC_000006.10:g.35873236_35873237insTGTG | NCBI36 |
| NG_012184.3:g.5276_5277insTGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651132.1:c.-255+22_-255+23insTGTG | ENSP00000498322.1:n.-255+22_-255+23insTGTG | |
| XM_011514403.1:c.-135+22_-135+23insTGTG | XP_011512705.1:n.-135+22_-135+23insTGTG |