ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48463260_48463261del , CM000677.2:g.48463260_48463261del | GRCh38 |
| NC_000015.9:g.48755457_48755458del , CM000677.1:g.48755457_48755458del | GRCh37 |
| NC_000015.8:g.46542749_46542750del | NCBI36 |
| NG_008805.2:g.187534_187535del , LRG_778:g.187534_187535del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5066-15_5066-14del | ENSP00000453958.2:n.5066-15_5066-14del | |
| ENST00000674301.2:c.5066-15_5066-14del | ENSP00000501333.2:n.5066-15_5066-14del | |
| ENST00000684448.1:n.3740-15_3740-14del | ||
| ENST00000316623.10:c.5066-15_5066-14del MANE Select | ENSP00000325527.5:n.5066-15_5066-14del | |
| ENST00000674301.1:c.65-15_65-14del | ENSP00000501333.1:n.65-15_65-14del | |
| ENST00000316623.9:c.5066-15_5066-14del | ENSP00000325527.5:n.5066-15_5066-14del | |
| ENST00000537463.6:c.*829-15_*829-14del | ENSP00000440294.2:n.*829-15_*829-14del | |
| ENST00000559133.5:c.373-15_373-14del | ||
| NM_000138.4:c.5066-15_5066-14del , LRG_778t1:c.5066-15_5066-14del | NP_000129.3:n.5066-15_5066-14del | |
| NM_000138.5:c.5066-15_5066-14del MANE Select | NP_000129.3:n.5066-15_5066-14del |