Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188996516_188996520del , CM000664.2:g.188996516_188996520del | GRCh38 |
| NC_000002.11:g.189861242_189861246del , CM000664.1:g.189861242_189861246del | GRCh37 |
| NC_000002.10:g.189569487_189569491del | NCBI36 |
| NG_007404.1:g.27144_27148del , LRG_3:g.27144_27148del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1662+20_1662+24del | ENSP00000415346.2:n.1662+20_1662+24del | |
| ENST00000304636.9:c.1761+20_1761+24del MANE Select | ENSP00000304408.4:n.1761+20_1761+24del | |
| ENST00000304636.7:c.1761+20_1761+24del | ENSP00000304408.3:n.1761+20_1761+24del | |
| ENST00000317840.9:c.1761+20_1761+24del | ENSP00000315243.6:n.1761+20_1761+24del | |
| NM_000090.3:c.1761+20_1761+24del , LRG_3t1:c.1761+20_1761+24del | NP_000081.1:n.1761+20_1761+24del | |
| NM_000090.4:c.1761+20_1761+24del MANE Select | NP_000081.2:n.1761+20_1761+24del |