Linked Data
dbSNP Id:
rs1375224532
gnomAD v2:
6-1610268-CTGGTTATTTGG-C
gnomAD v3:
6-1610033-CTGGTTATTTGG-C
gnomAD v4:
6-1610033-CTGGTTATTTGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610034_1610044del , CM000668.2:g.1610034_1610044del | GRCh38 |
| NC_000006.11:g.1610269_1610279del , CM000668.1:g.1610269_1610279del | GRCh37 |
| NC_000006.10:g.1555268_1555278del | NCBI36 |
| NG_009368.1:g.4589_4599del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.-412_-402del MANE Select | ENSP00000493906.1:n.-412_-402del | |
| ENST00000380874.3:c.-412_-402del | ENSP00000370256.2:n.-412_-402del | |
| NM_001453.3:c.-412_-402del MANE Select | NP_001444.2:n.-412_-402del |