Linked Data
gnomAD v4:
4-52038094-C-CCAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038094_52038095insCAGG , CM000666.2:g.52038094_52038095insCAGG | GRCh38 |
| NC_000004.11:g.52904260_52904261insCAGG , CM000666.1:g.52904260_52904261insCAGG | GRCh37 |
| NC_000004.10:g.52599017_52599018insCAGG | NCBI36 |
| NG_008891.1:g.5225_5226insCCTG , LRG_204:g.5225_5226insCCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.33+132_33+133insCCTG MANE Select | ENSP00000370839.6:n.33+132_33+133insCCTG | |
| ENST00000381431.9:c.33+132_33+133insCCTG | ENSP00000370839.5:n.33+132_33+133insCCTG | |
| ENST00000506357.5:c.19+132_19+133insCCTG | ||
| NM_000232.4:c.33+132_33+133insCCTG , LRG_204t1:c.33+132_33+133insCCTG | NP_000223.1:n.33+132_33+133insCCTG | |
| XM_011534403.1:c.33+132_33+133insCCTG | XP_011532705.1:n.33+132_33+133insCCTG | |
| NM_000232.5:c.33+132_33+133insCCTG MANE Select | NP_000223.1:n.33+132_33+133insCCTG |