Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53196598_53196601del , CM000663.2:g.53196598_53196601del | GRCh38 |
| NC_000001.10:g.53662270_53662273del , CM000663.1:g.53662270_53662273del | GRCh37 |
| NC_000001.9:g.53434858_53434861del | NCBI36 |
| NG_008035.1:g.5170_5173del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.3:c.-346_-343del | ENSP00000360541.3:n.-346_-343del | |
| NM_000098.2:c.-346_-343del | NP_000089.1:n.-346_-343del | |
| NM_001330589.1:c.-346_-343del | NP_001317518.1:n.-346_-343del |