Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189005459_189005460del , CM000664.2:g.189005459_189005460del | GRCh38 |
| NC_000002.11:g.189870185_189870186del , CM000664.1:g.189870185_189870186del | GRCh37 |
| NC_000002.10:g.189578430_189578431del | NCBI36 |
| NG_007404.1:g.36087_36088del , LRG_3:g.36087_36088del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2940+2_2940+3del | ||
| ENST00000304636.9:c.3039+2_3039+3del | ||
| ENST00000304636.7:c.3039+2_3039+3del | ||
| ENST00000317840.9:c.2527+2423_2527+2424del | ENSP00000315243.6:n.2527+2423_2527+2424del | |
| NM_000090.3:c.3039+2_3039+3del , LRG_3t1:c.3039+2_3039+3del | ||
| NM_000090.4:c.3039+2_3039+3del |