Linked Data
gnomAD v4:
1-114709731-A-ACTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709731_114709732insCTG , CM000663.2:g.114709731_114709732insCTG | GRCh38 |
| NC_000001.10:g.115252352_115252353insCTG , CM000663.1:g.115252352_115252353insCTG | GRCh37 |
| NC_000001.9:g.115053875_115053876insCTG | NCBI36 |
| NG_007572.1:g.12163_12164insCAG , LRG_92:g.12163_12164insCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.291-4_291-3insCAG MANE Select | ENSP00000358548.4:n.291-4_291-3insCAG | |
| ENST00000369535.4:c.291-4_291-3insCAG | ENSP00000358548.4:n.291-4_291-3insCAG | |
| NM_002524.4:c.291-4_291-3insCAG | NP_002515.1:n.291-4_291-3insCAG | |
| NM_002524.5:c.291-4_291-3insCAG MANE Select | NP_002515.1:n.291-4_291-3insCAG |