Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027738_17027751del , CM000663.2:g.17027738_17027751del | GRCh38 |
| NC_000001.10:g.17354233_17354246del , CM000663.1:g.17354233_17354246del | GRCh37 |
| NC_000001.9:g.17226820_17226833del | NCBI36 |
| NG_012340.1:g.31422_31435del , LRG_316:g.31422_31435del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.369_369+13del | ||
| ENST00000491274.6:c.498_498+13del | ||
| ENST00000375499.8:c.540_540+13del | ||
| ENST00000375499.7:c.540_540+13del | ||
| ENST00000475506.1:n.457_470del | ||
| ENST00000485515.5:n.474_474+13del | ||
| ENST00000491274.5:c.498_498+13del | ||
| NM_003000.2:c.540_540+13del , LRG_316t1:c.540_540+13del | ||
| NM_003000.3:c.540_540+13del |