Linked Data
gnomAD v4:
8-118111436-G-GAGTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111436_118111437insAGTA , CM000670.2:g.118111436_118111437insAGTA | GRCh38 |
| NC_000008.10:g.119123675_119123676insAGTA , CM000670.1:g.119123675_119123676insAGTA | GRCh37 |
| NC_000008.9:g.119192856_119192857insAGTA | NCBI36 |
| NG_007455.2:g.5383_5384insTACT , LRG_493:g.5383_5384insTACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-391_-390insTACT MANE Select | ENSP00000367446.3:n.-391_-390insTACT | |
| ENST00000378204.6:c.-391_-390insTACT | ENSP00000367446.2:n.-391_-390insTACT | |
| NM_000127.2:c.-391_-390insTACT , LRG_493t1:c.-391_-390insTACT | NP_000118.2:n.-391_-390insTACT | |
| NM_000127.3:c.-391_-390insTACT MANE Select | NP_000118.2:n.-391_-390insTACT |