Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113117874_113117875del , CM000664.2:g.113117874_113117875del | GRCh38 |
| NC_000002.11:g.113875451_113875452del , CM000664.1:g.113875451_113875452del | GRCh37 |
| NC_000002.10:g.113591922_113591923del | NCBI36 |
| NG_021240.1:g.4982_4983del , LRG_188:g.4982_4983del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.-272-2192_-272-2191del | ENSP00000387210.1:n.-272-2192_-272-2191del | |
| ENST00000465812.6:n.775+209_775+210del | ||
| ENST00000409052.5:c.-272-2192_-272-2191del | ENSP00000387210.1:n.-272-2192_-272-2191del | |
| XM_011511121.1:c.-272-2192_-272-2191del | XP_011509423.1:n.-272-2192_-272-2191del |