Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420985_23420996del , CM000676.2:g.23420985_23420996del | GRCh38 |
| NC_000014.8:g.23890194_23890205del , CM000676.1:g.23890194_23890205del | GRCh37 |
| NC_000014.7:g.22960034_22960045del | NCBI36 |
| NG_007884.1:g.19668_19679del , LRG_384:g.19668_19679del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3300_3311del MANE Select | ENSP00000347507.3:p.Gly1101_Leu1104del | |
| ENST00000355349.3:c.3300_3311del | ENSP00000347507.3:p.Gly1101_Leu1104del | |
| NM_000257.3:c.3300_3311del | NP_000248.2:p.Gly1101_Leu1104del | |
| XR_245686.3:n.3408_3419del | ||
| XM_017021340.1:c.3300_3311del | XP_016876829.1:p.Gly1101_Leu1104del | |
| NM_000257.4:c.3300_3311del MANE Select | NP_000248.2:p.Gly1101_Leu1104del |