Linked Data
gnomAD v3:
10-87960876-C-CTTTTTTTTTTTTTTTTTTTTTTA
gnomAD v4:
10-87960876-C-CTTTTTTTTTTTTTTTTTTTTTTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960891_87960892insTTTTTTTATTTTTTTTTTTTTTT , CM000672.2:g.87960891_87960892insTTTTTTTATTTTTTTTTTTTTTT | GRCh38 |
| NC_000010.10:g.89720648_89720649insTTTTTTTATTTTTTTTTTTTTTT , CM000672.1:g.89720648_89720649insTTTTTTTATTTTTTTTTTTTTTT | GRCh37 |
| NC_000010.9:g.89710628_89710629insTTTTTTTATTTTTTTTTTTTTTT | NCBI36 |
| NG_007466.2:g.102453_102454insTTTTTTTATTTTTTTTTTTTTTT , LRG_311:g.102453_102454insTTTTTTTATTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.895-3_895-2insTTTTTTTATTTTTTTTTTTTTTT | ENSP00000514759.2:n.895-3_895-2insTTTTTTT... | |
| ENST00000710265.1:c.802-3_802-2insTTTTTTTATTTTTTTTTTTTTTT | ENSP00000518161.1:n.802-3_802-2insTTTTTTT... | |
| ENST00000472832.3:c.802-3_802-2insTTTTTTTATTTTTTTTTTTTTTT | ENSP00000483066.2:n.802-3_802-2insTTTTTTT... | |
| ENST00000688158.2:n.1537-3_1537-2insTTTTTTTATTTTTTTTTTTTTTT | ||
| ENST00000688922.2:c.*632-3_*632-2insTTTTTTTATTTTTTTTTTTTTTT | ENSP00000508742.2:n.*632-3_*632-2insTTTTT... | |
| ENST00000700021.1:c.757-3_757-2insTTTTTTTATTTTTTTTTTTTTTT | ENSP00000514757.1:n.757-3_757-2insTTTTTTT... | |
| ENST00000700022.1:c.*141-3_*141-2insTTTTTTTATTTTTTTTTTTTTTT | ENSP00000514758.1:n.*141-3_*141-2insTTTTT... | |
| ENST00000700023.1:n.1960-3_1960-2insTTTTTTTATTTTTTTTTTTTTTT | ||
| ENST00000700024.1:n.2194-3_2194-2insTTTTTTTATTTTTTTTTTTTTTT | ||
| ENST00000700025.1:n.1571-3_1571-2insTTTTTTTATTTTTTTTTTTTTTT | ||
| ENST00000700026.1:n.439-3_439-2insTTTTTTTATTTTTTTTTTTTTTT | ||
| ENST00000700029.1:c.729-3_729-2insTTTTTTTATTTTTTTTTTTTTTT | ||
| ENST00000706954.1:c.802-3_802-2insTTTTTTTATTTTTTTTTTTTTTT | ENSP00000516674.1:n.802-3_802-2insTTTTTTT... | |
| ENST00000706955.1:c.*837-3_*837-2insTTTTTTTATTTTTTTTTTTTTTT | ENSP00000516675.1:n.*837-3_*837-2insTTTTT... | |
| ENST00000686459.1:c.*388-3_*388-2insTTTTTTTATTTTTTTTTTTTTTT | ENSP00000508909.1:n.*388-3_*388-2insTTTTT... | |
| ENST00000688158.1:c.*913-3_*913-2insTTTTTTTATTTTTTTTTTTTTTT | ENSP00000509254.1:n.*913-3_*913-2insTTTTT... | |
| ENST00000688308.1:c.802-3_802-2insTTTTTTTATTTTTTTTTTTTTTT | ENSP00000508752.1:n.802-3_802-2insTTTTTTT... | |
| ENST00000688922.1:c.723-3_723-2insTTTTTTTATTTTTTTTTTTTTTT | ||
| ENST00000693560.1:c.1321-3_1321-2insTTTTTTTATTTTTTTTTTTTTTT | ENSP00000509861.1:n.1321-3_1321-2insTTTTT... | |
| ENST00000371953.8:c.802-3_802-2insTTTTTTTATTTTTTTTTTTTTTT MANE Select | ENSP00000361021.3:n.802-3_802-2insTTTTTTT... | |
| ENST00000371953.7:c.802-3_802-2insTTTTTTTATTTTTTTTTTTTTTT | ENSP00000361021.3:n.802-3_802-2insTTTTTTT... | |
| ENST00000472832.2:c.229-3_229-2insTTTTTTTATTTTTTTTTTTTTTT | ENSP00000483066.1:n.229-3_229-2insTTTTTTT... | |
| NM_000314.5:c.802-3_802-2insTTTTTTTATTTTTTTTTTTTTTT | NP_000305.3:n.802-3_802-2insTTTTTTTATTTTT... | |
| NM_000314.6:c.802-3_802-2insTTTTTTTATTTTTTTTTTTTTTT | NP_000305.3:n.802-3_802-2insTTTTTTTATTTTT... | |
| NM_001304717.2:c.1321-3_1321-2insTTTTTTTATTTTTTTTTTTTTTT | NP_001291646.2:n.1321-3_1321-2insTTTTTTTA... | |
| NM_001304718.1:c.211-3_211-2insTTTTTTTATTTTTTTTTTTTTTT | NP_001291647.1:n.211-3_211-2insTTTTTTTATT... | |
| XM_006717926.2:c.757-3_757-2insTTTTTTTATTTTTTTTTTTTTTT | XP_006717989.1:n.757-3_757-2insTTTTTTTATT... | |
| XM_011539981.1:c.802-3_802-2insTTTTTTTATTTTTTTTTTTTTTT | XP_011538283.1:n.802-3_802-2insTTTTTTTATT... | |
| XM_011539982.1:c.706-3_706-2insTTTTTTTATTTTTTTTTTTTTTT | XP_011538284.1:n.706-3_706-2insTTTTTTTATT... | |
| XR_945791.1:n.1372-3_1372-2insTTTTTTTATTTTTTTTTTTTTTT | ||
| NM_000314.7:c.802-3_802-2insTTTTTTTATTTTTTTTTTTTTTT | NP_000305.3:n.802-3_802-2insTTTTTTTATTTTT... | |
| NM_001304717.5:c.1321-3_1321-2insTTTTTTTATTTTTTTTTTTTTTT | NP_001291646.4:n.1321-3_1321-2insTTTTTTTA... | |
| NM_001304718.2:c.211-3_211-2insTTTTTTTATTTTTTTTTTTTTTT | NP_001291647.1:n.211-3_211-2insTTTTTTTATT... | |
| NM_000314.8:c.802-3_802-2insTTTTTTTATTTTTTTTTTTTTTT MANE Select | NP_000305.3:n.802-3_802-2insTTTTTTTATTTTT... |