Linked Data
ClinVar Variation Id:
1803212
ClinVar RCV Id:
RCV002466882
gnomAD v4:
16-31462744-T-TGACACTGGGGCCCTGGGCCGGCTGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31462746_31462771dup , CM000678.2:g.31462746_31462771dup | GRCh38 |
| NC_000016.9:g.31474067_31474092dup , CM000678.1:g.31474067_31474092dup | GRCh37 |
| NC_000016.8:g.31381568_31381593dup | NCBI36 |
| NG_034258.1:g.9474_9499dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268314.9:c.1199_1224dup MANE Select | ENSP00000268314.4:p.Ala409ThrfsTer? | |
| ENST00000268314.8:c.1199_1224dup | ENSP00000268314.4:p.Ala409ThrfsTer? | |
| ENST00000408912.7:c.1484_1509dup | ENSP00000386125.3:p.Ala504ThrfsTer? | |
| ENST00000457010.6:c.1199_1224dup | ENSP00000399561.2:p.Ala409ThrfsTer? | |
| ENST00000538189.5:c.707_732dup | ENSP00000443995.2:p.Ala245ThrfsTer? | |
| ENST00000563544.5:c.1199_1224dup | ENSP00000456877.1:p.Ala409ThrfsTer? | |
| ENST00000564900.1:c.213-26_213-1dup | ||
| NM_001105247.1:c.1199_1224dup | NP_001098717.1:p.Ala409ThrfsTer? | |
| NM_001288767.1:c.1484_1509dup | NP_001275696.1:p.Ala504ThrfsTer? | |
| NM_001301820.1:c.1295_1320dup | NP_001288749.1:p.Ala441ThrfsTer? | |
| NM_024742.2:c.1199_1224dup | NP_079018.1:p.Ala409ThrfsTer? | |
| XM_006721091.1:c.1295_1320dup | XP_006721154.1:p.Ala441ThrfsTer? | |
| XM_006721091.3:c.1295_1320dup | XP_006721154.1:p.Ala441ThrfsTer? | |
| XM_024450448.1:c.1295_1320dup | XP_024306216.1:p.Ala441ThrfsTer? | |
| XM_024450449.1:c.1295_1320dup | XP_024306217.1:p.Ala441ThrfsTer? | |
| NM_001105247.2:c.1199_1224dup MANE Select | NP_001098717.1:p.Ala409ThrfsTer? | |
| NM_001288767.2:c.1484_1509dup | NP_001275696.1:p.Ala504ThrfsTer? |