Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188988648_188988651del , CM000664.2:g.188988648_188988651del | GRCh38 |
| NC_000002.11:g.189853374_189853377del , CM000664.1:g.189853374_189853377del | GRCh37 |
| NC_000002.10:g.189561619_189561622del | NCBI36 |
| NG_007404.1:g.19276_19279del , LRG_3:g.19276_19279del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000090.3:c.636+5_636+8del , LRG_3t1:c.636+5_636+8del | |
| NM_000090.4:c.636+5_636+8del | |
| ENST00000304636.7:c.636+5_636+8del | |
| ENST00000304636.9:c.636+5_636+8del | |
| ENST00000317840.9:c.636+5_636+8del | |
| ENST00000450867.2:c.636+5_636+8del |