Linked Data
ClinVar Variation Id:
2899068
ClinVar RCV Id:
RCV003620166
dbSNP Id:
rs776995551
gnomAD v2:
1-40562868-G-GGAGAGCCACAGCC
gnomAD v4:
1-40097196-G-GGAGAGCCACAGCC
MyVariant Identifiers:
chr1:g.40562868_40562869insGAGAGCCACAGCC (hg19)
chr1:g.40097196_40097197insGAGAGCCACAGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097197_40097209dup , CM000663.2:g.40097197_40097209dup | GRCh38 |
| NC_000001.10:g.40562869_40562881dup , CM000663.1:g.40562869_40562881dup | GRCh37 |
| NC_000001.9:g.40335456_40335468dup | NCBI36 |
| NG_009192.1:g.5262_5274dup , LRG_690:g.5262_5274dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.30_42dup | ENSP00000361865.5:p.Leu15GlyfsTer33 | |
| ENST00000433473.8:c.30_42dup | ENSP00000394863.4:p.Leu15GlyfsTer? | |
| ENST00000439754.6:c.30_42dup | ENSP00000403207.2:p.Leu15GlyfsTer? | |
| ENST00000449045.7:c.30_42dup | ENSP00000392293.2:p.Leu15GlyfsTer? | |
| ENST00000526547.2:c.4_16dup | ||
| ENST00000527311.7:c.30_42dup | ENSP00000436695.3:p.Leu15GlyfsTer? | |
| ENST00000530704.6:c.30_42dup | ENSP00000431655.1:p.Leu15GlyfsTer? | |
| ENST00000641083.1:c.8_20dup | ||
| ENST00000641236.1:n.42_54dup | ||
| ENST00000641319.1:c.30_42dup | ENSP00000493128.1:p.Leu15GlyfsTer? | |
| ENST00000641471.1:c.30_42dup | ENSP00000493146.1:p.Leu15GlyfsTer? | |
| ENST00000641548.1:c.30_42dup | ENSP00000492984.1:p.Leu15GlyfsTer? | |
| ENST00000641691.1:c.30_42dup | ENSP00000492910.1:p.Leu15GlyfsTer? | |
| ENST00000641924.1:c.30_42dup | ENSP00000493063.1:p.Leu15GlyfsTer? | |
| ENST00000642050.2:c.30_42dup MANE Select | ENSP00000493153.1:p.Leu15GlyfsTer? | |
| ENST00000372779.8:c.30_42dup | ENSP00000361865.4:p.Leu15GlyfsTer? | |
| ENST00000433473.7:c.30_42dup | ENSP00000394863.3:p.Leu15GlyfsTer? | |
| ENST00000449045.6:c.30_42dup | ENSP00000392293.2:p.Leu15GlyfsTer? | |
| ENST00000527311.6:c.30_42dup | ENSP00000436695.2:p.Leu15GlyfsTer? | |
| ENST00000529905.5:c.30_42dup | ENSP00000432053.1:p.Leu15GlyfsTer? | |
| ENST00000530704.5:c.30_42dup | ENSP00000431655.1:p.Leu15GlyfsTer? | |
| NM_000310.3:c.30_42dup , LRG_690t1:c.30_42dup | NP_000301.1:p.Leu15GlyfsTer? | |
| NM_001142604.1:c.30_42dup | NP_001136076.1:p.Leu15GlyfsTer? | |
| XM_005271008.1:c.30_42dup | XP_005271065.1:p.Leu15GlyfsTer? | |
| NM_001363695.1:c.30_42dup | NP_001350624.1:p.Leu15GlyfsTer? | |
| NM_000310.4:c.30_42dup MANE Select | NP_000301.1:p.Leu15GlyfsTer? | |
| NM_001142604.2:c.30_42dup | NP_001136076.1:p.Leu15GlyfsTer? | |
| NM_001363695.2:c.30_42dup | NP_001350624.1:p.Leu15GlyfsTer? |