Linked Data
ClinVar Variation Id:
1039866
ClinVar RCV Id:
RCV001343421
dbSNP Id:
rs2053521870
gnomAD v4:
17-43091736-ATTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091740_43091742del , CM000679.2:g.43091740_43091742del | GRCh38 |
| NC_000017.10:g.41243757_41243759del , CM000679.1:g.41243757_41243759del | GRCh37 |
| NC_000017.9:g.38497283_38497285del | NCBI36 |
| NG_005905.2:g.126245_126247del , LRG_292:g.126245_126247del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.3856_3858del | ||
| ENST00000461574.2:c.3792_3794del | ENSP00000417241.2:p.Lys1264del | |
| ENST00000470026.6:c.3792_3794del | ENSP00000419274.2:p.Lys1264del | |
| ENST00000473961.6:c.3666_3668del | ENSP00000420201.2:p.Lys1222del | |
| ENST00000476777.6:c.3789_3791del | ENSP00000417554.2:p.Lys1263del | |
| ENST00000477152.6:c.3714_3716del | ENSP00000419988.2:p.Lys1238del | |
| ENST00000478531.6:c.785-707_785-705del | ENSP00000420412.2:n.785-707_785-705del | |
| ENST00000489037.2:c.3714_3716del | ENSP00000420781.2:p.Lys1238del | |
| ENST00000493919.6:c.647-707_647-705del | ENSP00000418819.2:n.647-707_647-705del | |
| ENST00000494123.6:c.3792_3794del | ENSP00000419103.2:p.Lys1264del | |
| ENST00000497488.2:c.2904_2906del | ENSP00000418986.2:p.Lys968del | |
| ENST00000618469.2:c.3792_3794del | ENSP00000478114.2:p.Lys1264del | |
| ENST00000634433.2:c.3669_3671del | ENSP00000489431.2:p.Lys1223del | |
| ENST00000644379.2:c.3792_3794del | ENSP00000496570.2:p.Lys1264del | |
| ENST00000644555.2:c.647-707_647-705del | ENSP00000494614.2:n.647-707_647-705del | |
| ENST00000652672.2:c.3651_3653del | ENSP00000498906.2:p.Lys1217del | |
| ENST00000484087.6:c.665-707_665-705del | ENSP00000419481.2:n.665-707_665-705del | |
| ENST00000700182.1:c.707-707_707-705del | ENSP00000514849.1:n.707-707_707-705del | |
| ENST00000357654.9:c.3792_3794del MANE Select | ENSP00000350283.3:p.Lys1264del | |
| ENST00000471181.7:c.3792_3794del | ENSP00000418960.2:p.Lys1264del | |
| ENST00000644379.1:c.113_115del | ||
| ENST00000352993.7:c.671-707_671-705del | ENSP00000312236.5:n.671-707_671-705del | |
| ENST00000354071.7:c.3792_3794del | ENSP00000326002.7:p.Lys1264del | |
| ENST00000357654.7:c.3792_3794del | ENSP00000350283.3:p.Lys1264del | |
| ENST00000461221.5:c.*3575_*3577del | ENSP00000418548.1:n.*3575_*3577del | |
| ENST00000461574.1:c.86_88del | ||
| ENST00000468300.5:c.788-707_788-705del | ENSP00000417148.1:n.788-707_788-705del | |
| ENST00000471181.6:c.3792_3794del | ENSP00000418960.2:p.Lys1264del | |
| ENST00000478531.5:c.785-707_785-705del | ENSP00000420412.1:n.785-707_785-705del | |
| ENST00000484087.5:c.410-707_410-705del | ENSP00000419481.1:n.410-707_410-705del | |
| ENST00000487825.5:c.413-707_413-705del | ENSP00000418212.1:n.413-707_413-705del | |
| ENST00000491747.6:c.788-707_788-705del | ENSP00000420705.2:n.788-707_788-705del | |
| ENST00000493795.5:c.3651_3653del | ENSP00000418775.1:p.Lys1217del | |
| ENST00000493919.5:c.647-707_647-705del | ENSP00000418819.1:n.647-707_647-705del | |
| ENST00000586385.5:c.5-27788_5-27786del | ENSP00000465818.1:n.5-27788_5-27786del | |
| ENST00000591534.5:c.-43-17218_-43-17216del | ENSP00000467329.1:n.-43-17218_-43-17216del | |
| ENST00000591849.5:c.-99+33532_-99+33534del | ENSP00000465347.1:n.-99+33532_-99+33534del | |
| NM_007294.3:c.3792_3794del , LRG_292t1:c.3792_3794del | NP_009225.1:p.Lys1264del | |
| NM_007297.3:c.3651_3653del | NP_009228.2:p.Lys1217del | |
| NM_007298.3:c.788-707_788-705del | NP_009229.2:n.788-707_788-705del | |
| NM_007299.3:c.788-707_788-705del | NP_009230.2:n.788-707_788-705del | |
| NM_007300.3:c.3792_3794del | NP_009231.2:p.Lys1264del | |
| NR_027676.1:n.3928_3930del | ||
| NM_007294.4:c.3792_3794del MANE Select | NP_009225.1:p.Lys1264del | |
| NM_007297.4:c.3651_3653del | NP_009228.2:p.Lys1217del | |
| NM_007299.4:c.788-707_788-705del | NP_009230.2:n.788-707_788-705del | |
| NM_007300.4:c.3792_3794del | NP_009231.2:p.Lys1264del | |
| NR_027676.2:n.3969_3971del |