Linked Data
gnomAD v4:
8-118111433-C-CACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111433_118111434insACA , CM000670.2:g.118111433_118111434insACA | GRCh38 |
| NC_000008.10:g.119123672_119123673insACA , CM000670.1:g.119123672_119123673insACA | GRCh37 |
| NC_000008.9:g.119192853_119192854insACA | NCBI36 |
| NG_007455.2:g.5386_5387insTGT , LRG_493:g.5386_5387insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-388_-387insTGT MANE Select | ENSP00000367446.3:n.-388_-387insTGT | |
| ENST00000378204.6:c.-388_-387insTGT | ENSP00000367446.2:n.-388_-387insTGT | |
| NM_000127.2:c.-388_-387insTGT , LRG_493t1:c.-388_-387insTGT | NP_000118.2:n.-388_-387insTGT | |
| NM_000127.3:c.-388_-387insTGT MANE Select | NP_000118.2:n.-388_-387insTGT |