Linked Data
ClinVar Variation Id:
142397
ClinVar RCV Id:
RCV000131492
RCV000203983
RCV000254681
RCV000409649
RCV000588392
RCV001798452
RCV002272138
RCV004544298
dbSNP Id:
rs587780544
ExAC:
10:89690790 ACTTTT / A
gnomAD v2:
10-89690790-ACTTTT-A
gnomAD v3:
10-87931033-ACTTTT-A
gnomAD v4:
10-87931033-ACTTTT-A
COSMIC:
COSM27105
MyVariant Identifiers:
chr10:g.89690796_89690800del (hg19)
chr10:g.89690791_89690795del (hg19)
chr10:g.87931039_87931043del (hg38)
chr10:g.87931035_87931039del (hg38)
chr10:g.87931034_87931038del (hg38)
ERepo:
CA059460/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87931039_87931043del , CM000672.2:g.87931039_87931043del | GRCh38 |
| NC_000010.10:g.89690796_89690800del , CM000672.1:g.89690796_89690800del | GRCh37 |
| NC_000010.9:g.89680776_89680780del | NCBI36 |
| NG_007466.2:g.72601_72605del , LRG_311:g.72601_72605del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.210-7_210-3del | ENSP00000514759.2:n.210-7_210-3del | |
| ENST00000710265.1:c.210-7_210-3del | ENSP00000518161.1:n.210-7_210-3del | |
| ENST00000472832.3:c.210-7_210-3del | ENSP00000483066.2:n.210-7_210-3del | |
| ENST00000688158.2:n.945-7_945-3del | ||
| ENST00000688922.2:c.*40-7_*40-3del | ENSP00000508742.2:n.*40-7_*40-3del | |
| ENST00000700021.1:c.165-7_165-3del | ENSP00000514757.1:n.165-7_165-3del | |
| ENST00000700022.1:c.210-7_210-3del | ENSP00000514758.1:n.210-7_210-3del | |
| ENST00000700029.1:c.44-7_44-3del | ||
| ENST00000706954.1:c.210-7_210-3del | ENSP00000516674.1:n.210-7_210-3del | |
| ENST00000706955.1:c.*245-7_*245-3del | ENSP00000516675.1:n.*245-7_*245-3del | |
| ENST00000686459.1:c.210-7_210-3del | ENSP00000508909.1:n.210-7_210-3del | |
| ENST00000688158.1:c.*321-7_*321-3del | ENSP00000509254.1:n.*321-7_*321-3del | |
| ENST00000688308.1:c.210-7_210-3del | ENSP00000508752.1:n.210-7_210-3del | |
| ENST00000688922.1:c.131-7_131-3del | ||
| ENST00000693560.1:c.729-7_729-3del | ENSP00000509861.1:n.729-7_729-3del | |
| ENST00000371953.8:c.210-7_210-3del MANE Select | ENSP00000361021.3:n.210-7_210-3del | |
| ENST00000371953.7:c.210-7_210-3del | ENSP00000361021.3:n.210-7_210-3del | |
| ENST00000498703.1:n.36-7_36-3del | ||
| ENST00000610634.1:c.108-7_108-3del | ENSP00000477517.1:n.108-7_108-3del | |
| NM_000314.5:c.210-7_210-3del | NP_000305.3:n.210-7_210-3del | |
| NM_000314.6:c.210-7_210-3del | NP_000305.3:n.210-7_210-3del | |
| NM_001304717.2:c.729-7_729-3del | NP_001291646.2:n.729-7_729-3del | |
| NM_001304718.1:c.-541-7_-541-3del | NP_001291647.1:n.-541-7_-541-3del | |
| XM_006717926.2:c.165-7_165-3del | XP_006717989.1:n.165-7_165-3del | |
| XM_011539981.1:c.210-7_210-3del | XP_011538283.1:n.210-7_210-3del | |
| XM_011539982.1:c.114-7_114-3del | XP_011538284.1:n.114-7_114-3del | |
| XR_945789.1:n.922-7_922-3del | ||
| XR_945790.1:n.922-7_922-3del | ||
| XR_945791.1:n.922-7_922-3del | ||
| NM_000314.7:c.210-7_210-3del | NP_000305.3:n.210-7_210-3del | |
| NM_001304717.5:c.729-7_729-3del | NP_001291646.4:n.729-7_729-3del | |
| NM_001304718.2:c.-541-7_-541-3del | NP_001291647.1:n.-541-7_-541-3del | |
| NM_000314.8:c.210-7_210-3del MANE Select | NP_000305.3:n.210-7_210-3del |