Linked Data
dbSNP Id:
rs1553157356
gnomAD v2:
1-65298774-G-GTGGTGTT
gnomAD v3:
1-64833091-G-GTGGTGTT
gnomAD v4:
1-64833091-G-GTGGTGTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833093_64833094insGTGTTTG , CM000663.2:g.64833093_64833094insGTGTTTG | GRCh38 |
| NC_000001.10:g.65298776_65298777insGTGTTTG , CM000663.1:g.65298776_65298777insGTGTTTG | GRCh37 |
| NC_000001.9:g.65071364_65071365insGTGTTTG | NCBI36 |
| NG_023402.1:g.138413_138414insAACACCA | |
| NG_023402.2:g.239655_239656insAACACCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2108_*2109insGTGTTTG MANE Select | ENSP00000294428.3:n.*2108_*2109insGTGTTTG... | |
| ENST00000294428.7:c.*2108_*2109insGTGTTTG | ENSP00000294428.3:n.*2108_*2109insGTGTTTG... | |
| ENST00000371072.8:c.*2108_*2109insGTGTTTG | ENSP00000360112.4:n.*2108_*2109insGTGTTTG... | |
| NM_018211.3:c.*2108_*2109insGTGTTTG | NP_060681.2:n.*2108_*2109insGTGTTTG | |
| XM_006710738.2:c.*2108_*2109insGTGTTTG | XP_006710801.2:n.*2108_*2109insGTGTTTG | |
| NM_001366165.1:c.*2108_*2109insGTGTTTG | NP_001353094.1:n.*2108_*2109insGTGTTTG | |
| XR_946693.3:n.4527_4528insGTGTTTG | ||
| NM_018211.4:c.*2108_*2109insGTGTTTG | NP_060681.2:n.*2108_*2109insGTGTTTG | |
| NM_001366165.2:c.*2108_*2109insGTGTTTG MANE Select | NP_001353094.1:n.*2108_*2109insGTGTTTG |