gnomAD v2:
gnomAD v3:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091762_43091763del , CM000679.2:g.43091762_43091763del | GRCh38 |
| NC_000017.10:g.41243779_41243780del , CM000679.1:g.41243779_41243780del | GRCh37 |
| NC_000017.9:g.38497305_38497306del | NCBI36 |
| NG_005905.2:g.126223_126224del , LRG_292:g.126223_126224del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.3834_3835del | ||
| ENST00000461574.2:c.3770_3771del | ENSP00000417241.2:p.Glu1257GlyfsTer9 | |
| ENST00000470026.6:c.3770_3771del | ENSP00000419274.2:p.Glu1257GlyfsTer9 | |
| ENST00000473961.6:c.3644_3645del | ENSP00000420201.2:p.Glu1215GlyfsTer9 | |
| ENST00000476777.6:c.3767_3768del | ENSP00000417554.2:p.Glu1256GlyfsTer9 | |
| ENST00000477152.6:c.3692_3693del | ENSP00000419988.2:p.Glu1231GlyfsTer9 | |
| ENST00000478531.6:c.785-729_785-728del | ENSP00000420412.2:n.785-729_785-728del | |
| ENST00000489037.2:c.3692_3693del | ENSP00000420781.2:p.Glu1231GlyfsTer9 | |
| ENST00000493919.6:c.647-729_647-728del | ENSP00000418819.2:n.647-729_647-728del | |
| ENST00000494123.6:c.3770_3771del | ENSP00000419103.2:p.Glu1257GlyfsTer9 | |
| ENST00000497488.2:c.2882_2883del | ENSP00000418986.2:p.Glu961GlyfsTer9 | |
| ENST00000618469.2:c.3770_3771del | ENSP00000478114.2:p.Glu1257GlyfsTer9 | |
| ENST00000634433.2:c.3647_3648del | ENSP00000489431.2:p.Glu1216GlyfsTer9 | |
| ENST00000644379.2:c.3770_3771del | ENSP00000496570.2:p.Glu1257GlyfsTer9 | |
| ENST00000644555.2:c.647-729_647-728del | ENSP00000494614.2:n.647-729_647-728del | |
| ENST00000652672.2:c.3629_3630del | ENSP00000498906.2:p.Glu1210GlyfsTer9 | |
| ENST00000484087.6:c.665-729_665-728del | ENSP00000419481.2:n.665-729_665-728del | |
| ENST00000700182.1:c.707-729_707-728del | ENSP00000514849.1:n.707-729_707-728del | |
| ENST00000357654.9:c.3770_3771del MANE Select | ENSP00000350283.3:p.Glu1257GlyfsTer9 | |
| ENST00000471181.7:c.3770_3771del | ENSP00000418960.2:p.Glu1257GlyfsTer9 | |
| ENST00000644379.1:c.91_92del | ||
| ENST00000352993.7:c.671-729_671-728del | ENSP00000312236.5:n.671-729_671-728del | |
| ENST00000354071.7:c.3770_3771del | ENSP00000326002.7:p.Glu1257GlyfsTer9 | |
| ENST00000357654.7:c.3770_3771del | ENSP00000350283.3:p.Glu1257GlyfsTer9 | |
| ENST00000461221.5:c.*3553_*3554del | ENSP00000418548.1:n.*3553_*3554del | |
| ENST00000461574.1:c.64_65del | ||
| ENST00000468300.5:c.788-729_788-728del | ENSP00000417148.1:n.788-729_788-728del | |
| ENST00000471181.6:c.3770_3771del | ENSP00000418960.2:p.Glu1257GlyfsTer9 | |
| ENST00000478531.5:c.785-729_785-728del | ENSP00000420412.1:n.785-729_785-728del | |
| ENST00000484087.5:c.410-729_410-728del | ENSP00000419481.1:n.410-729_410-728del | |
| ENST00000487825.5:c.413-729_413-728del | ENSP00000418212.1:n.413-729_413-728del | |
| ENST00000491747.6:c.788-729_788-728del | ENSP00000420705.2:n.788-729_788-728del | |
| ENST00000493795.5:c.3629_3630del | ENSP00000418775.1:p.Glu1210GlyfsTer9 | |
| ENST00000493919.5:c.647-729_647-728del | ENSP00000418819.1:n.647-729_647-728del | |
| ENST00000586385.5:c.5-27810_5-27809del | ENSP00000465818.1:n.5-27810_5-27809del | |
| ENST00000591534.5:c.-43-17240_-43-17239del | ENSP00000467329.1:n.-43-17240_-43-17239del | |
| ENST00000591849.5:c.-99+33510_-99+33511del | ENSP00000465347.1:n.-99+33510_-99+33511del | |
| NM_007294.3:c.3770_3771del , LRG_292t1:c.3770_3771del | NP_009225.1:p.Glu1257GlyfsTer9 | |
| NM_007297.3:c.3629_3630del | NP_009228.2:p.Glu1210GlyfsTer9 | |
| NM_007298.3:c.788-729_788-728del | NP_009229.2:n.788-729_788-728del | |
| NM_007299.3:c.788-729_788-728del | NP_009230.2:n.788-729_788-728del | |
| NM_007300.3:c.3770_3771del | NP_009231.2:p.Glu1257GlyfsTer9 | |
| NR_027676.1:n.3906_3907del | ||
| NM_007294.4:c.3770_3771del MANE Select | NP_009225.1:p.Glu1257GlyfsTer9 | |
| NM_007297.4:c.3629_3630del | NP_009228.2:p.Glu1210GlyfsTer9 | |
| NM_007299.4:c.788-729_788-728del | NP_009230.2:n.788-729_788-728del | |
| NM_007300.4:c.3770_3771del | NP_009231.2:p.Glu1257GlyfsTer9 | |
| NR_027676.2:n.3947_3948del |