Linked Data
ClinVar Variation Id:
189425
dbSNP Id:
rs786204877
ExAC:
10:89685245 TTTTG / T
gnomAD v2:
10-89685245-TTTTG-T
gnomAD v3:
10-87925488-TTTTG-T
gnomAD v4:
10-87925488-TTTTG-T
MyVariant Identifiers:
chr10:g.89685257_89685260del (hg19)
chr10:g.89685246_89685249del (hg19)
chr10:g.87925500_87925503del (hg38)
chr10:g.87925489_87925492del (hg38)
ERepo:
CA059366/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87925500_87925503del , CM000672.2:g.87925500_87925503del | GRCh38 |
| NC_000010.10:g.89685257_89685260del , CM000672.1:g.89685257_89685260del | GRCh37 |
| NC_000010.9:g.89675237_89675240del | NCBI36 |
| NG_007466.2:g.67062_67065del , LRG_311:g.67062_67065del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.165-13_165-10del | ENSP00000514759.2:n.165-13_165-10del | |
| ENST00000710265.1:c.165-13_165-10del | ENSP00000518161.1:n.165-13_165-10del | |
| ENST00000472832.3:c.165-13_165-10del | ENSP00000483066.2:n.165-13_165-10del | |
| ENST00000688158.2:n.900-13_900-10del | ||
| ENST00000688922.2:c.165-13_165-10del | ENSP00000508742.2:n.165-13_165-10del | |
| ENST00000700021.1:c.165-5546_165-5543del | ENSP00000514757.1:n.165-5546_165-5543del | |
| ENST00000700022.1:c.165-13_165-10del | ENSP00000514758.1:n.165-13_165-10del | |
| ENST00000706954.1:c.165-13_165-10del | ENSP00000516674.1:n.165-13_165-10del | |
| ENST00000706955.1:c.*200-13_*200-10del | ENSP00000516675.1:n.*200-13_*200-10del | |
| ENST00000686459.1:c.165-13_165-10del | ENSP00000508909.1:n.165-13_165-10del | |
| ENST00000688158.1:c.*276-13_*276-10del | ENSP00000509254.1:n.*276-13_*276-10del | |
| ENST00000688308.1:c.165-13_165-10del | ENSP00000508752.1:n.165-13_165-10del | |
| ENST00000688922.1:c.34-13_34-10del | ||
| ENST00000693560.1:c.684-13_684-10del | ENSP00000509861.1:n.684-13_684-10del | |
| ENST00000371953.8:c.165-13_165-10del MANE Select | ENSP00000361021.3:n.165-13_165-10del | |
| ENST00000371953.7:c.165-13_165-10del | ENSP00000361021.3:n.165-13_165-10del | |
| ENST00000610634.1:c.63-13_63-10del | ENSP00000477517.1:n.63-13_63-10del | |
| NM_000314.5:c.165-13_165-10del | NP_000305.3:n.165-13_165-10del | |
| NM_000314.6:c.165-13_165-10del | NP_000305.3:n.165-13_165-10del | |
| NM_001304717.2:c.684-13_684-10del | NP_001291646.2:n.684-13_684-10del | |
| NM_001304718.1:c.-541-5546_-541-5543del | NP_001291647.1:n.-541-5546_-541-5543del | |
| XM_006717926.2:c.165-5546_165-5543del | XP_006717989.1:n.165-5546_165-5543del | |
| XM_011539981.1:c.165-13_165-10del | XP_011538283.1:n.165-13_165-10del | |
| XM_011539982.1:c.69-13_69-10del | XP_011538284.1:n.69-13_69-10del | |
| XR_945789.1:n.877-13_877-10del | ||
| XR_945790.1:n.877-13_877-10del | ||
| XR_945791.1:n.877-13_877-10del | ||
| NM_000314.7:c.165-13_165-10del | NP_000305.3:n.165-13_165-10del | |
| NM_001304717.5:c.684-13_684-10del | NP_001291646.4:n.684-13_684-10del | |
| NM_001304718.2:c.-541-5546_-541-5543del | NP_001291647.1:n.-541-5546_-541-5543del | |
| NM_000314.8:c.165-13_165-10del MANE Select | NP_000305.3:n.165-13_165-10del |