Linked Data
gnomAD v2:
22-19906811-T-TCCC
gnomAD v3:
22-19919288-T-TCCC
gnomAD v4:
22-19919288-T-TCCC
MyVariant Identifiers:
chr22:g.19906811_19906812insCCC (hg19)
chr22:g.19919288_19919289insCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19919288_19919289insCCC , CM000684.2:g.19919288_19919289insCCC | GRCh38 |
| NC_000022.10:g.19906811_19906812insCCC , CM000684.1:g.19906811_19906812insCCC | GRCh37 |
| NC_000022.9:g.18286811_18286812insCCC | NCBI36 |
| NG_011835.1:g.27548_27549insGGG , LRG_417:g.27548_27549insGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.229+254_229+255insGGG MANE Select | ENSP00000383365.1:n.229+254_229+255insGGG | |
| ENST00000334363.14:c.229+254_229+255insGGG | ENSP00000334451.9:n.229+254_229+255insGGG | |
| ENST00000400518.5:c.139+254_139+255insGGG | ENSP00000383362.1:n.139+254_139+255insGGG | |
| ENST00000400519.6:c.226+254_226+255insGGG | ENSP00000383363.1:n.226+254_226+255insGGG | |
| ENST00000400521.6:c.229+254_229+255insGGG | ENSP00000383365.1:n.229+254_229+255insGGG | |
| ENST00000400525.6:c.160+254_160+255insGGG | ENSP00000383369.3:n.160+254_160+255insGGG | |
| ENST00000474308.5:c.173-285_173-284insGGG | ENSP00000485665.1:n.173-285_173-284insGGG | |
| ENST00000491939.6:c.133+254_133+255insGGG | ENSP00000485543.1:n.133+254_133+255insGGG | |
| ENST00000496729.2:n.234+254_234+255insGGG | ||
| ENST00000542719.6:c.-60+254_-60+255insGGG | ENSP00000485128.2:n.-60+254_-60+255insGGG | |
| NM_001282512.1:c.229+254_229+255insGGG | NP_001269441.1:n.229+254_229+255insGGG | |
| NM_006440.4:c.229+254_229+255insGGG | NP_006431.2:n.229+254_229+255insGGG | |
| NM_001282512.2:c.229+254_229+255insGGG | NP_001269441.1:n.229+254_229+255insGGG | |
| NM_001352300.1:c.226+254_226+255insGGG | NP_001339229.1:n.226+254_226+255insGGG | |
| NM_001352301.1:c.139+254_139+255insGGG | NP_001339230.1:n.139+254_139+255insGGG | |
| NM_001352302.1:c.-60+254_-60+255insGGG | NP_001339231.1:n.-60+254_-60+255insGGG | |
| NM_001352303.1:c.133+254_133+255insGGG | NP_001339232.1:n.133+254_133+255insGGG | |
| NR_147957.1:n.362-285_362-284insGGG | ||
| NM_006440.5:c.229+254_229+255insGGG MANE Select | NP_006431.2:n.229+254_229+255insGGG | |
| NM_001282512.3:c.229+254_229+255insGGG | NP_001269441.1:n.229+254_229+255insGGG | |
| NM_001352300.2:c.226+254_226+255insGGG | NP_001339229.1:n.226+254_226+255insGGG | |
| NR_147957.2:n.188-285_188-284insGGG | ||
| NM_001352301.2:c.139+254_139+255insGGG | NP_001339230.1:n.139+254_139+255insGGG | |
| NM_001352302.2:c.-60+254_-60+255insGGG | NP_001339231.1:n.-60+254_-60+255insGGG | |
| NM_001352303.2:c.133+254_133+255insGGG | NP_001339232.1:n.133+254_133+255insGGG |