Linked Data
dbSNP Id:
rs1558042814
gnomAD v2:
1-209974552-C-CAAAA
MyVariant Identifiers:
chr1:g.209974552_209974553insAAAA (hg19)
chr1:g.209801207_209801208insAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209801208_209801209insAAAA , CM000663.2:g.209801208_209801209insAAAA | GRCh38 |
| NC_000001.10:g.209974553_209974554insAAAA , CM000663.1:g.209974553_209974554insAAAA | GRCh37 |
| NC_000001.9:g.208041176_208041177insAAAA | NCBI36 |
| NG_007081.2:g.9927_9928insTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.174+32_174+33insTTTT | ENSP00000512426.1:n.174+32_174+33insTTTT | |
| ENST00000696134.1:c.174+32_174+33insTTTT | ENSP00000512427.1:n.174+32_174+33insTTTT | |
| ENST00000367021.8:c.174+32_174+33insTTTT MANE Select | ENSP00000355988.3:n.174+32_174+33insTTTT | |
| ENST00000643798.1:c.174+32_174+33insTTTT | ENSP00000496669.1:n.174+32_174+33insTTTT | |
| ENST00000367021.7:c.174+32_174+33insTTTT | ENSP00000355988.3:n.174+32_174+33insTTTT | |
| ENST00000456314.1:c.174+32_174+33insTTTT | ENSP00000403855.1:n.174+32_174+33insTTTT | |
| ENST00000542854.5:c.-111-4656_-111-4655insTTTT | ENSP00000440532.1:n.-111-4656_-111-4655insTTTT | |
| NM_001206696.1:c.-111-4656_-111-4655insTTTT | NP_001193625.1:n.-111-4656_-111-4655insTTTT | |
| NM_006147.3:c.174+32_174+33insTTTT | NP_006138.1:n.174+32_174+33insTTTT | |
| NM_006147.4:c.174+32_174+33insTTTT MANE Select | NP_006138.1:n.174+32_174+33insTTTT | |
| NM_001206696.2:c.-111-4656_-111-4655insTTTT | NP_001193625.1:n.-111-4656_-111-4655insTTTT |