Linked Data
gnomAD v4:
1-1535351-C-CAGGTAAGTCTCACAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535351_1535352insAGGTAAGTCTCACAG , CM000663.2:g.1535351_1535352insAGGTAAGTCTCACAG | GRCh38 |
| NC_000001.10:g.1470731_1470732insAGGTAAGTCTCACAG , CM000663.1:g.1470731_1470732insAGGTAAGTCTCACAG | GRCh37 |
| NC_000001.9:g.1460594_1460595insAGGTAAGTCTCACAG | NCBI36 |
| NG_041807.1:g.10009_10010insCTGTGAGACTTACCT | |
| NG_053035.1:g.28209_28210insAGGTAAGTCTCACAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.*7_*8insCTGTGAGACTTACCT MANE Select | ENSP00000368007.4:n.*7_*8insCTGTGAGACTTACCT | |
| ENST00000378733.8:c.*7_*8insCTGTGAGACTTACCT | ENSP00000368007.4:n.*7_*8insCTGTGAGACTTACCT | |
| ENST00000425828.1:c.*7_*8insCTGTGAGACTTACCT | ENSP00000400311.1:n.*7_*8insCTGTGAGACTTACCT | |
| NM_001114748.1:c.*7_*8insCTGTGAGACTTACCT | NP_001108220.1:n.*7_*8insCTGTGAGACTTACCT | |
| NM_001114748.2:c.*7_*8insCTGTGAGACTTACCT MANE Select | NP_001108220.1:n.*7_*8insCTGTGAGACTTACCT |