Linked Data
dbSNP Id:
rs779999546
ExAC:
11:88911848 A / ATG
gnomAD v2:
11-88911848-A-ATG
gnomAD v3:
11-89178680-A-ATG
gnomAD v4:
11-89178680-A-ATG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178680_89178681insTG , CM000673.2:g.89178680_89178681insTG | GRCh38 |
| NC_000011.9:g.88911848_88911849insTG , CM000673.1:g.88911848_88911849insTG | GRCh37 |
| NC_000011.8:g.88551496_88551497insTG | NCBI36 |
| NG_008748.1:g.5809_5810insTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.727_728insTG MANE Select | ENSP00000263321.4:p.Lys243MetfsTer? | |
| ENST00000263321.5:c.727_728insTG | ENSP00000263321.4:p.Lys243MetfsTer? | |
| ENST00000526139.1:n.788_789insTG | ||
| NM_000372.4:c.727_728insTG | NP_000363.1:p.Lys243MetfsTer? | |
| XM_011542970.1:c.727_728insTG | XP_011541272.1:p.Lys243MetfsTer? | |
| XM_011542970.2:c.727_728insTG | XP_011541272.1:p.Lys243MetfsTer? | |
| XR_001748321.1:n.2718-65148_2718-65147insCA | ||
| XR_001748322.1:n.2733-65148_2733-65147insCA | ||
| NM_000372.5:c.727_728insTG MANE Select | NP_000363.1:p.Lys243MetfsTer? |