Linked Data
gnomAD v4:
8-118111432-T-TACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111432_118111433insACA , CM000670.2:g.118111432_118111433insACA | GRCh38 |
| NC_000008.10:g.119123671_119123672insACA , CM000670.1:g.119123671_119123672insACA | GRCh37 |
| NC_000008.9:g.119192852_119192853insACA | NCBI36 |
| NG_007455.2:g.5387_5388insTGT , LRG_493:g.5387_5388insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-387_-386insTGT MANE Select | ENSP00000367446.3:n.-387_-386insTGT | |
| ENST00000378204.6:c.-387_-386insTGT | ENSP00000367446.2:n.-387_-386insTGT | |
| NM_000127.2:c.-387_-386insTGT , LRG_493t1:c.-387_-386insTGT | NP_000118.2:n.-387_-386insTGT | |
| NM_000127.3:c.-387_-386insTGT MANE Select | NP_000118.2:n.-387_-386insTGT |