Linked Data
gnomAD v3:
11-112228593-G-GTTTTTTTTATTTTTTTTTTTTTTTTT
gnomAD v4:
11-112228593-G-GTTTTTTTTATTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112228594_112228595insTTTTTTTATTTTTTTTTTTTTTTTTT , CM000673.2:g.112228594_112228595insTTTTTTTATTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000011.9:g.112099317_112099318insTTTTTTTATTTTTTTTTTTTTTTTTT , CM000673.1:g.112099317_112099318insTTTTTTTATTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000011.8:g.111604527_111604528insTTTTTTTATTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_008743.1:g.7230_7231insTTTTTTTATTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280362.8:c.84_85insTTTTTTTATTTTTTTTTTTTTTTTTT MANE Select | ENSP00000280362.3:p.Lys29PhefsTer12 | |
| ENST00000280362.7:c.84_85insTTTTTTTATTTTTTTTTTTTTTTTTT | ENSP00000280362.3:p.Lys29PhefsTer12 | |
| ENST00000524931.1:c.-121_-120insTTTTTTTATTTTTTTTTTTTTTTTTT | ENSP00000434688.1:n.-121_-120insTTTTTTTATTTTTTTTTTTTTTTTTT | |
| ENST00000525645.1:n.159_160insTTTTTTTATTTTTTTTTTTTTTTTTT | ||
| ENST00000525803.1:c.84_85insTTTTTTTATTTTTTTTTTTTTTTTTT | ENSP00000431750.1:p.Lys29PhefsTer12 | |
| ENST00000528679.5:c.84_85insTTTTTTTATTTTTTTTTTTTTTTTTT | ENSP00000435895.1:p.Lys29PhefsTer12 | |
| ENST00000531673.5:c.84_85insTTTTTTTATTTTTTTTTTTTTTTTTT | ENSP00000433469.1:p.Lys29PhefsTer12 | |
| NM_000317.2:c.84_85insTTTTTTTATTTTTTTTTTTTTTTTTT | NP_000308.1:p.Lys29PhefsTer12 | |
| NM_000317.3:c.84_85insTTTTTTTATTTTTTTTTTTTTTTTTT MANE Select | NP_000308.1:p.Lys29PhefsTer12 |