Linked Data
ClinVar Variation Id:
56629
ClinVar RCV Id:
RCV001571767
dbSNP Id:
rs386834055
ExAC:
8:100865697 T / TA
gnomAD v2:
8-100865697-T-TA
gnomAD v3:
8-99853469-T-TA
gnomAD v4:
8-99853469-T-TA
MyVariant Identifiers:
chr8:g.100865698dupA (hg19)
chr8:g.100865697_100865698insA (hg19)
chr8:g.99853470dupA (hg38)
chr8:g.99853469_99853470insA (hg38)
PubMed:
PMID:22855652
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99853470dup , CM000670.2:g.99853470dup | GRCh38 |
| NC_000008.10:g.100865698dup , CM000670.1:g.100865698dup | GRCh37 |
| NC_000008.9:g.100934874dup | NCBI36 |
| NG_007098.2:g.845205dup , LRG_351:g.845205dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.10156dup | ENSP00000507923.1:p.Thr3386AsnfsTer3 | |
| ENST00000682358.1:n.10226dup | ||
| ENST00000683334.1:c.*5838dup | ENSP00000507369.1:n.*5838dup | |
| ENST00000357162.7:c.10081dup MANE Select | ENSP00000349685.2:p.Thr3361AsnfsTer3 | |
| ENST00000358544.7:c.10156dup MANE Plus Clinical | ENSP00000351346.2:p.Thr3386AsnfsTer3 | |
| ENST00000357162.6:c.10081dup | ENSP00000349685.2:p.Thr3361AsnfsTer3 | |
| ENST00000358544.6:c.10156dup | ENSP00000351346.2:p.Thr3386AsnfsTer3 | |
| NM_017890.4:c.10156dup , LRG_351t1:c.10156dup | NP_060360.3:p.Thr3386AsnfsTer3 | |
| NM_152564.4:c.10081dup , LRG_351t2:c.10081dup | NP_689777.3:p.Thr3361AsnfsTer3 | |
| XM_005250800.2:c.10156dup | XP_005250857.1:p.Thr3386AsnfsTer3 | |
| XM_005250801.3:c.10156dup | XP_005250858.1:p.Thr3386AsnfsTer3 | |
| XM_011516848.1:c.10153dup | XP_011515150.1:p.Thr3385AsnfsTer3 | |
| XM_011516849.1:c.10078dup | XP_011515151.1:p.Thr3360AsnfsTer3 | |
| XM_011516850.1:c.9778dup | XP_011515152.1:p.Thr3260AsnfsTer3 | |
| XM_011516851.1:c.7042dup | XP_011515153.1:p.Thr2348AsnfsTer3 | |
| XM_011516852.1:c.7042dup | XP_011515154.1:p.Thr2348AsnfsTer3 | |
| XM_011516854.1:c.5935dup | XP_011515156.1:p.Thr1979AsnfsTer3 | |
| XM_005250800.3:c.10156dup | XP_005250857.1:p.Thr3386AsnfsTer3 | |
| XM_005250801.5:c.10156dup | XP_005250858.1:p.Thr3386AsnfsTer3 | |
| XM_011516848.2:c.10153dup | XP_011515150.1:p.Thr3385AsnfsTer3 | |
| XM_011516849.2:c.10078dup | XP_011515151.1:p.Thr3360AsnfsTer3 | |
| XM_011516850.2:c.9778dup | XP_011515152.1:p.Thr3260AsnfsTer3 | |
| XM_011516851.2:c.7042dup | XP_011515153.1:p.Thr2348AsnfsTer3 | |
| XM_011516852.2:c.7042dup | XP_011515154.1:p.Thr2348AsnfsTer3 | |
| XM_011516854.2:c.5935dup | XP_011515156.1:p.Thr1979AsnfsTer3 | |
| XM_017013109.1:c.9961dup | XP_016868598.1:p.Thr3321AsnfsTer3 | |
| XM_017013111.1:c.7042dup | XP_016868600.1:p.Thr2348AsnfsTer3 | |
| XM_017013112.1:c.5713dup | XP_016868601.1:p.Thr1905AsnfsTer3 | |
| XM_024447074.1:c.8941dup | XP_024302842.1:p.Thr2981AsnfsTer3 | |
| NM_017890.5:c.10156dup MANE Plus Clinical | NP_060360.3:p.Thr3386AsnfsTer3 | |
| NM_152564.5:c.10081dup MANE Select | NP_689777.3:p.Thr3361AsnfsTer3 |