ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58724037_58724041del , CM000679.2:g.58724037_58724041del | GRCh38 |
| NC_000017.10:g.56801398_56801402del , CM000679.1:g.56801398_56801402del | GRCh37 |
| NC_000017.9:g.54156397_54156401del | NCBI36 |
| NG_023199.1:g.36436_36440del , LRG_314:g.36436_36440del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.554-3_555del | ||
| ENST00000697680.1:c.*1869-3_*1870del | ||
| ENST00000697681.1:c.*2066-3_*2067del | ||
| ENST00000697683.1:c.*1769-3_*1770del | ||
| ENST00000697684.1:n.965-3_966del | ||
| ENST00000697685.1:c.*1602-3_*1603del | ||
| ENST00000697686.1:c.554-3_555del | ||
| ENST00000697687.1:n.784-3_785del | ||
| ENST00000697688.1:n.951-3_952del | ||
| ENST00000697689.1:c.*1440+3225_*1440+3229del | ENSP00000513398.1:n.*1440+3225_*1440+3229del | |
| ENST00000697690.1:c.904+3225_904+3229del | ENSP00000513399.1:n.904+3225_904+3229del | |
| ENST00000697691.1:c.*877-3_*878del | ||
| ENST00000697692.1:c.*917-3_*918del | ||
| ENST00000697694.1:c.554-3_555del | ||
| ENST00000697695.1:n.1512-3_1513del | ||
| ENST00000337432.9:c.905-3_906del | ||
| ENST00000337432.8:c.905-3_906del | ||
| ENST00000413590.5:c.543-3_544del | ||
| ENST00000475762.5:c.*1541-3_*1542del | ||
| ENST00000482007.5:c.*333-3_*334del | ||
| ENST00000487525.5:c.*478-3_*479del | ||
| ENST00000578151.1:n.239+3225_239+3229del | ||
| ENST00000581221.5:n.420-3_421del | ||
| ENST00000583539.5:c.905-3_906del | ||
| ENST00000584617.5:c.627-3_628del | ||
| ENST00000584804.1:c.199+3225_199+3229del | ENSP00000463658.1:n.199+3225_199+3229del | |
| NM_058216.2:c.905-3_906del | ||
| NR_103872.1:n.809-3_810del | ||
| XM_006722001.2:c.905-3_906del | ||
| XM_006722002.2:c.904+3225_904+3229del | XP_006722065.1:n.904+3225_904+3229del | |
| XM_006722004.2:c.554-3_555del | ||
| XM_006722005.2:c.554-3_555del | ||
| XM_011525092.1:c.554-3_555del | ||
| XM_011525093.1:c.554-3_555del | ||
| XM_011525094.1:c.554-3_555del | ||
| XR_934513.1:n.1123-3_1124del | ||
| XR_934514.1:n.1123-3_1124del | ||
| XM_006722001.4:c.905-3_906del | ||
| XM_006722002.4:c.904+3225_904+3229del | XP_006722065.1:n.904+3225_904+3229del | |
| XM_006722004.3:c.554-3_555del | ||
| XM_006722005.3:c.554-3_555del | ||
| XM_011525092.2:c.554-3_555del | ||
| XM_011525093.2:c.554-3_555del | ||
| XM_011525094.2:c.554-3_555del | ||
| XM_017024914.1:c.554-3_555del | ||
| XM_017024915.1:c.554-3_555del | ||
| XM_017024916.1:c.554-3_555del | ||
| XM_017024917.1:c.554-3_555del | ||
| XM_017024918.2:c.554-3_555del | ||
| XM_017024919.1:c.553+3225_553+3229del | XP_016880408.1:n.553+3225_553+3229del | |
| XR_934513.3:n.1554-3_1555del | ||
| XR_934514.3:n.1554-3_1555del | ||
| NM_058216.3:c.905-3_906del | ||
| NR_103872.2:n.780-3_781del |