Linked Data
ClinVar Variation Id:
4086
dbSNP Id:
rs786205067
gnomAD v4:
15-68214315-A-ACGTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68214316_68214319dup , CM000677.2:g.68214316_68214319dup | GRCh38 |
| NC_000015.9:g.68506654_68506657dup , CM000677.1:g.68506654_68506657dup | GRCh37 |
| NC_000015.8:g.66293708_66293711dup | NCBI36 |
| NG_008764.2:g.47893_47896dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249806.11:c.268_271dup MANE Select | ENSP00000249806.5:p.Val91GlufsTer? | |
| ENST00000562767.2:c.83+15183_83+15186dup | ENSP00000456336.1:n.83+15183_83+15186dup | |
| ENST00000563917.2:n.110_113dup | ||
| ENST00000565471.6:c.84-4560_84-4557dup | ENSP00000457384.1:n.84-4560_84-4557dup | |
| ENST00000635747.1:c.*171_*174dup | ENSP00000490627.1:n.*171_*174dup | |
| ENST00000635754.1:n.1290_1293dup | ||
| ENST00000636020.1:n.400_403dup | ||
| ENST00000636212.1:c.268_271dup | ENSP00000489851.1:p.Val91GlufsTer? | |
| ENST00000636314.1:c.153_156dup | ENSP00000490295.1:p.Ser53AsnfsTer? | |
| ENST00000637054.1:c.198+4217_198+4220dup | ENSP00000490807.1:n.198+4217_198+4220dup | |
| ENST00000637223.1:c.*171_*174dup | ENSP00000490010.1:n.*171_*174dup | |
| ENST00000637329.1:c.179_182dup | ||
| ENST00000637450.1:c.153_156dup | ENSP00000490204.1:p.Ser53AsnfsTer? | |
| ENST00000637494.1:c.199-3001_199-2998dup | ENSP00000490057.1:n.199-3001_199-2998dup | |
| ENST00000637667.1:c.199-2456_199-2453dup | ENSP00000489843.1:n.199-2456_199-2453dup | |
| ENST00000637823.1:c.194_197dup | ||
| ENST00000637888.1:c.198+4217_198+4220dup | ENSP00000490546.1:n.198+4217_198+4220dup | |
| ENST00000638076.1:c.268_271dup | ENSP00000490373.1:p.Val91GlufsTer? | |
| ENST00000638144.1:n.100_103dup | ||
| ENST00000646164.1:c.38+4217_38+4220dup | ||
| ENST00000249806.9:c.268_271dup | ENSP00000249806.5:p.Val91GlufsTer? | |
| ENST00000538696.5:c.364_367dup | ENSP00000445770.1:p.Val123GlufsTer? | |
| ENST00000562767.1:c.83+15183_83+15186dup | ENSP00000456336.1:n.83+15183_83+15186dup | |
| ENST00000563917.1:n.49_52dup | ||
| ENST00000564752.1:c.268_271dup | ENSP00000457822.1:p.Val91GlufsTer? | |
| ENST00000564846.1:n.700_703dup | ||
| ENST00000565471.5:c.84-4560_84-4557dup | ENSP00000457384.1:n.84-4560_84-4557dup | |
| ENST00000566347.5:c.268_271dup | ENSP00000457783.1:p.Val91GlufsTer15 | |
| ENST00000567060.5:c.268_271dup | ENSP00000454818.1:p.Val91GlufsTer22 | |
| NM_017882.2:c.268_271dup | NP_060352.1:p.Val91GlufsTer? | |
| XR_931861.1:n.371_374dup | ||
| NM_017882.3:c.268_271dup MANE Select | NP_060352.1:p.Val91GlufsTer? |