Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985960_1986010del , CM000678.2:g.1985960_1986010del | GRCh38 |
| NC_000016.9:g.2035961_2036011del , CM000678.1:g.2035961_2036011del | GRCh37 |
| NC_000016.8:g.1975962_1976012del | NCBI36 |
| NG_016288.1:g.6812_6862del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.325_375del | ENSP00000455885.1:p.Pro109_Lys125del | |
| ENST00000248114.7:c.550_600del MANE Select | ENSP00000248114.6:p.Pro184_Lys200del | |
| ENST00000248114.6:c.550_600del | ENSP00000248114.6:p.Pro184_Lys200del | |
| ENST00000565658.1:n.707_757del | ||
| ENST00000567719.1:c.325_375del | ENSP00000455885.1:p.Pro109_Lys125del | |
| ENST00000569451.1:c.*23_*73del | ENSP00000456432.1:n.*23_*73del | |
| NM_005262.2:c.550_600del | NP_005253.3:p.Pro184_Lys200del | |
| NM_005262.3:c.550_600del MANE Select | NP_005253.3:p.Pro184_Lys200del |