Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53560660_53560663del , CM000667.2:g.53560660_53560663del | GRCh38 |
| NC_000005.9:g.52856490_52856493del , CM000667.1:g.52856490_52856493del | GRCh37 |
| NC_000005.8:g.52892247_52892250del | NCBI36 |
| NG_008200.1:g.5026_5029del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.-3_1del | ||
| ENST00000296684.9:c.-3_1del | ||
| ENST00000502423.5:c.-3_1del | ||
| ENST00000506974.5:c.-3_1del | ||
| ENST00000507026.5:c.-3_1del | ||
| NM_002495.2:c.-3_1del | ||
| XM_005248525.3:c.-3_1del | ||
| XM_011543414.1:c.-3_1del | ||
| NM_001318051.1:c.-3_1del | ||
| NM_002495.3:c.-3_1del | ||
| NR_134473.1:n.28_31del | ||
| NR_134474.1:n.28_31del | ||
| NR_134475.1:n.28_31del | ||
| XM_017009491.1:c.-3_1del | ||
| NM_002495.4:c.-3_1del | ||
| NM_001318051.2:c.-3_1del | ||
| NR_134473.2:n.22_25del | ||
| NR_134474.2:n.22_25del | ||
| NR_134475.2:n.22_25del |