Linked Data
ClinVar Variation Id:
301452
ClinVar RCV Id:
RCV000316623
dbSNP Id:
rs5786797
gnomAD v2:
10-89726659-GTT-G
gnomAD v3:
10-87966902-GTT-G
gnomAD v4:
10-87966902-GTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87966930_87966931del , CM000672.2:g.87966930_87966931del | GRCh38 |
| NC_000010.10:g.89726687_89726688del , CM000672.1:g.89726687_89726688del | GRCh37 |
| NC_000010.9:g.89716667_89716668del | NCBI36 |
| NG_007466.2:g.108492_108493del , LRG_311:g.108492_108493del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710265.1:c.*1699_*1700del | ENSP00000518161.1:n.*1699_*1700del | |
| ENST00000688158.2:n.3405_3406del | ||
| ENST00000706954.1:c.*1458_*1459del | ENSP00000516674.1:n.*1458_*1459del | |
| ENST00000706955.1:c.*2705_*2706del | ENSP00000516675.1:n.*2705_*2706del | |
| ENST00000688158.1:c.*2781_*2782del | ENSP00000509254.1:n.*2781_*2782del | |
| ENST00000693560.1:c.*1458_*1459del | ENSP00000509861.1:n.*1458_*1459del | |
| ENST00000371953.8:c.*1458_*1459del MANE Select | ENSP00000361021.3:n.*1458_*1459del | |
| ENST00000371953.7:c.*1458_*1459del | ENSP00000361021.3:n.*1458_*1459del | |
| NM_000314.5:c.*1458_*1459del | NP_000305.3:n.*1458_*1459del | |
| NM_000314.6:c.*1458_*1459del | NP_000305.3:n.*1458_*1459del | |
| NM_001304717.2:c.*1458_*1459del | NP_001291646.2:n.*1458_*1459del | |
| NM_001304718.1:c.*1458_*1459del | NP_001291647.1:n.*1458_*1459del | |
| XM_006717926.2:c.*1458_*1459del | XP_006717989.1:n.*1458_*1459del | |
| XM_011539982.1:c.*1458_*1459del | XP_011538284.1:n.*1458_*1459del | |
| XR_945791.1:n.3240_3241del | ||
| NM_000314.7:c.*1458_*1459del | NP_000305.3:n.*1458_*1459del | |
| NM_001304717.5:c.*1458_*1459del | NP_001291646.4:n.*1458_*1459del | |
| NM_001304718.2:c.*1458_*1459del | NP_001291647.1:n.*1458_*1459del | |
| NM_000314.8:c.*1458_*1459del MANE Select | NP_000305.3:n.*1458_*1459del |