Identifiers and link-outs to other resources
ClinVar Variation Id:
634809
ClinVar RCV Id:
RCV000785594
dbSNP Id:
rs1567790190
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091762_43091780del , CM000679.2:g.43091762_43091780del | GRCh38 |
| NC_000017.10:g.41243779_41243797del , CM000679.1:g.41243779_41243797del | GRCh37 |
| NC_000017.9:g.38497305_38497323del | NCBI36 |
| NG_005905.2:g.126202_126220del , LRG_292:g.126202_126220del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_007294.3:c.3749_3767del , LRG_292t1:c.3749_3767del | NP_009225.1:p.Cys1251ArgfsTer7 | |
| NM_007297.3:c.3608_3626del VV | NP_009228.2:p.Cys1204ArgfsTer7 | |
| NM_007298.3:c.788-750_788-732del VV | NP_009229.2:p.= | |
| NM_007299.3:c.788-750_788-732del VV | NP_009230.2:p.= | |
| NM_007300.3:c.3749_3767del VV | NP_009231.2:p.Cys1251ArgfsTer7 | |
| NR_027676.1:n.3885_3903del | ||
| NM_007294.4:c.3749_3767del VV MANE Preferred | NP_009225.1:p.Cys1251ArgfsTer7 | |
| NM_007297.4:c.3608_3626del VV | NP_009228.2:p.Cys1204ArgfsTer7 | |
| NM_007299.4:c.788-750_788-732del VV | NP_009230.2:p.= | |
| NM_007300.4:c.3749_3767del VV | NP_009231.2:p.Cys1251ArgfsTer7 | |
| NR_027676.2:n.3926_3944del | ||
| ENST00000352993.7:c.671-750_671-732del | ENSP00000312236.5:p.= | |
| ENST00000354071.7:c.3749_3767del | ENSP00000326002.7:p.Cys1251ArgfsTer7 | |
| ENST00000357654.7:c.3749_3767del | ENSP00000350283.3:p.Cys1251ArgfsTer7 | |
| ENST00000461221.5:c.*3532_*3550del | ENSP00000418548.1:p.= | |
| ENST00000461574.1:n.43_61del | ||
| ENST00000468300.5:c.788-750_788-732del | ENSP00000417148.1:p.= | |
| ENST00000471181.6:c.3749_3767del | ENSP00000418960.2:p.Cys1251ArgfsTer7 | |
| ENST00000478531.5:c.785-750_785-732del | ENSP00000420412.1:p.= | |
| ENST00000484087.5:n.410-750_410-732del | ENSP00000419481.1:p.= | |
| ENST00000487825.5:n.413-750_413-732del | ENSP00000418212.1:p.= | |
| ENST00000491747.6:c.788-750_788-732del | ENSP00000420705.2:p.= | |
| ENST00000493795.5:c.3608_3626del | ENSP00000418775.1:p.Cys1204ArgfsTer7 | |
| ENST00000493919.5:c.647-750_647-732del | ENSP00000418819.1:p.= | |
| ENST00000586385.5:c.5-27831_5-27813del | ENSP00000465818.1:p.= | |
| ENST00000591534.5:c.-43-17261_-43-17243del | ENSP00000467329.1:p.= | |
| ENST00000591849.5:c.-99+33489_-99+33507del | ENSP00000465347.1:p.= |