Linked Data
ClinVar Variation Id:
1376215
dbSNP Id:
rs1273383569
MyVariant Identifiers:
chr10:g.87960841_87960879del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960843_87960881del , CM000672.2:g.87960843_87960881del | GRCh38 |
| NC_000010.10:g.89720600_89720638del , CM000672.1:g.89720600_89720638del | GRCh37 |
| NC_000010.9:g.89710580_89710618del | NCBI36 |
| NG_007466.2:g.102405_102443del , LRG_311:g.102405_102443del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.895-51_895-13del | ENSP00000514759.2:n.895-51_895-13del | |
| ENST00000710265.1:c.802-51_802-13del | ENSP00000518161.1:n.802-51_802-13del | |
| ENST00000472832.3:c.802-51_802-13del | ENSP00000483066.2:n.802-51_802-13del | |
| ENST00000688158.2:n.1537-51_1537-13del | ||
| ENST00000688922.2:c.*632-51_*632-13del | ENSP00000508742.2:n.*632-51_*632-13del | |
| ENST00000700021.1:c.757-51_757-13del | ENSP00000514757.1:n.757-51_757-13del | |
| ENST00000700022.1:c.*141-51_*141-13del | ENSP00000514758.1:n.*141-51_*141-13del | |
| ENST00000700023.1:n.1960-51_1960-13del | ||
| ENST00000700024.1:n.2194-51_2194-13del | ||
| ENST00000700025.1:n.1571-51_1571-13del | ||
| ENST00000700026.1:n.439-51_439-13del | ||
| ENST00000700029.1:c.729-51_729-13del | ||
| ENST00000706954.1:c.802-51_802-13del | ENSP00000516674.1:n.802-51_802-13del | |
| ENST00000706955.1:c.*837-51_*837-13del | ENSP00000516675.1:n.*837-51_*837-13del | |
| ENST00000686459.1:c.*388-51_*388-13del | ENSP00000508909.1:n.*388-51_*388-13del | |
| ENST00000688158.1:c.*913-51_*913-13del | ENSP00000509254.1:n.*913-51_*913-13del | |
| ENST00000688308.1:c.802-51_802-13del | ENSP00000508752.1:n.802-51_802-13del | |
| ENST00000688922.1:c.723-51_723-13del | ||
| ENST00000693560.1:c.1321-51_1321-13del | ENSP00000509861.1:n.1321-51_1321-13del | |
| ENST00000371953.8:c.802-51_802-13del MANE Select | ENSP00000361021.3:n.802-51_802-13del | |
| ENST00000371953.7:c.802-51_802-13del | ENSP00000361021.3:n.802-51_802-13del | |
| ENST00000472832.2:c.229-51_229-13del | ENSP00000483066.1:n.229-51_229-13del | |
| NM_000314.5:c.802-51_802-13del | NP_000305.3:n.802-51_802-13del | |
| NM_000314.6:c.802-51_802-13del | NP_000305.3:n.802-51_802-13del | |
| NM_001304717.2:c.1321-51_1321-13del | NP_001291646.2:n.1321-51_1321-13del | |
| NM_001304718.1:c.211-51_211-13del | NP_001291647.1:n.211-51_211-13del | |
| XM_006717926.2:c.757-51_757-13del | XP_006717989.1:n.757-51_757-13del | |
| XM_011539981.1:c.802-51_802-13del | XP_011538283.1:n.802-51_802-13del | |
| XM_011539982.1:c.706-51_706-13del | XP_011538284.1:n.706-51_706-13del | |
| XR_945791.1:n.1372-51_1372-13del | ||
| NM_000314.7:c.802-51_802-13del | NP_000305.3:n.802-51_802-13del | |
| NM_001304717.5:c.1321-51_1321-13del | NP_001291646.4:n.1321-51_1321-13del | |
| NM_001304718.2:c.211-51_211-13del | NP_001291647.1:n.211-51_211-13del | |
| NM_000314.8:c.802-51_802-13del MANE Select | NP_000305.3:n.802-51_802-13del |