Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188993416_188993418del , CM000664.2:g.188993416_188993418del | GRCh38 |
| NC_000002.11:g.189858142_189858144del , CM000664.1:g.189858142_189858144del | GRCh37 |
| NC_000002.10:g.189566387_189566389del | NCBI36 |
| NG_007404.1:g.24044_24046del , LRG_3:g.24044_24046del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1050+476_1050+478del | ENSP00000415346.2:n.1050+476_1050+478del | |
| ENST00000304636.9:c.1106_1108del MANE Select | ENSP00000304408.4:p.Gly369del | |
| ENST00000304636.7:c.1106_1108del | ENSP00000304408.3:p.Gly369del | |
| ENST00000317840.9:c.1106_1108del | ENSP00000315243.6:p.Gly369del | |
| ENST00000450867.1:c.148+476_148+478del | ||
| NM_000090.3:c.1106_1108del , LRG_3t1:c.1106_1108del | NP_000081.1:p.Gly369del | |
| NM_000090.4:c.1106_1108del MANE Select | NP_000081.2:p.Gly369del |