Linked Data
dbSNP Id:
rs1053830620
gnomAD v3:
17-72123918-CGGCCCCGCA-C
gnomAD v4:
17-72123918-CGGCCCCGCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123922_72123930del , CM000679.2:g.72123922_72123930del | GRCh38 |
| NC_000017.10:g.70120063_70120071del , CM000679.1:g.70120063_70120071del | GRCh37 |
| NC_000017.9:g.67631658_67631666del | NCBI36 |
| NG_012490.1:g.7903_7911del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1065_1073del MANE Select | ENSP00000245479.2:p.Pro356_Ala358del | |
| ENST00000245479.2:c.1065_1073del | ENSP00000245479.2:p.Pro356_Ala358del | |
| NM_000346.3:c.1065_1073del | NP_000337.1:p.Pro356_Ala358del | |
| NM_000346.4:c.1065_1073del MANE Select | NP_000337.1:p.Pro356_Ala358del |