Linked Data
ClinVar Variation Id:
370947
ClinVar RCV Id:
RCV000411709
dbSNP Id:
rs1057516889
gnomAD v4:
1-40078632-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40078637dup , CM000663.2:g.40078637dup | GRCh38 |
| NC_000001.10:g.40544309dup , CM000663.1:g.40544309dup | GRCh37 |
| NC_000001.9:g.40316896dup | NCBI36 |
| NG_009192.1:g.23838dup , LRG_690:g.23838dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.650dup | ENSP00000394863.4:p.Asn217LysfsTer16 | |
| ENST00000439754.6:c.653dup | ENSP00000403207.2:p.Asn218LysfsTer16 | |
| ENST00000449045.7:c.344dup | ENSP00000392293.2:p.Asn115LysfsTer16 | |
| ENST00000527311.7:c.422dup | ENSP00000436695.3:p.Asn141LysfsTer16 | |
| ENST00000530076.6:c.-5dup | ENSP00000434007.1:n.-5dup | |
| ENST00000530704.6:c.*276dup | ENSP00000431655.1:n.*276dup | |
| ENST00000641083.1:c.631dup | ||
| ENST00000641236.1:n.890dup | ||
| ENST00000641319.1:c.653dup | ENSP00000493128.1:p.Asn218LysfsTer16 | |
| ENST00000641381.1:c.149-1720dup | ||
| ENST00000641471.1:c.740dup | ENSP00000493146.1:p.Asn247LysfsTer16 | |
| ENST00000641691.1:c.*505dup | ENSP00000492910.1:n.*505dup | |
| ENST00000641924.1:c.*82dup | ENSP00000493063.1:n.*82dup | |
| ENST00000642050.2:c.653dup MANE Select | ENSP00000493153.1:p.Asn218LysfsTer16 | |
| ENST00000372775.2:n.50dup | ||
| ENST00000372779.8:c.740dup | ENSP00000361865.4:p.Asn247LysfsTer16 | |
| ENST00000433473.7:c.653dup | ENSP00000394863.3:p.Asn218LysfsTer16 | |
| ENST00000439754.5:c.338dup | ENSP00000403207.1:p.Asn113LysfsTer16 | |
| ENST00000449045.6:c.344dup | ENSP00000392293.2:p.Asn115LysfsTer16 | |
| ENST00000527311.6:c.428dup | ENSP00000436695.2:p.Asn143LysfsTer16 | |
| ENST00000529905.5:c.653dup | ENSP00000432053.1:p.Asn218LysfsTer16 | |
| ENST00000530076.5:c.-5dup | ENSP00000434007.1:n.-5dup | |
| ENST00000530704.5:c.*276dup | ENSP00000431655.1:n.*276dup | |
| NM_000310.3:c.653dup , LRG_690t1:c.653dup | NP_000301.1:p.Asn218LysfsTer16 | |
| NM_001142604.1:c.344dup | NP_001136076.1:p.Asn115LysfsTer16 | |
| XM_005271008.1:c.653dup | XP_005271065.1:p.Asn218LysfsTer16 | |
| NM_001363695.1:c.653dup | NP_001350624.1:p.Asn218LysfsTer16 | |
| NM_000310.4:c.653dup MANE Select | NP_000301.1:p.Asn218LysfsTer16 | |
| NM_001142604.2:c.344dup | NP_001136076.1:p.Asn115LysfsTer16 | |
| NM_001363695.2:c.653dup | NP_001350624.1:p.Asn218LysfsTer16 |