Linked Data
dbSNP Id:
rs1554601614
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111376_118111377insAAAA , CM000670.2:g.118111376_118111377insAAAA | GRCh38 |
| NC_000008.10:g.119123615_119123616insAAAA , CM000670.1:g.119123615_119123616insAAAA | GRCh37 |
| NC_000008.9:g.119192796_119192797insAAAA | NCBI36 |
| NG_007455.2:g.5444_5445insTTTT , LRG_493:g.5444_5445insTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-330_-329insTTTT MANE Select | ENSP00000367446.3:n.-330_-329insTTTT | |
| ENST00000378204.6:c.-330_-329insTTTT | ENSP00000367446.2:n.-330_-329insTTTT | |
| NM_000127.2:c.-330_-329insTTTT , LRG_493t1:c.-330_-329insTTTT | NP_000118.2:n.-330_-329insTTTT | |
| NM_000127.3:c.-330_-329insTTTT MANE Select | NP_000118.2:n.-330_-329insTTTT |