Linked Data
gnomAD v4:
16-2326228-AGCAATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2326232_2326237del , CM000678.2:g.2326232_2326237del | GRCh38 |
| NC_000016.9:g.2376233_2376238del , CM000678.1:g.2376233_2376238del | GRCh37 |
| NC_000016.8:g.2316234_2316239del | NCBI36 |
| NG_011790.1:g.19513_19518del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.95_100del MANE Select | ENSP00000301732.5:p.Pro32_Leu33del | |
| ENST00000301732.9:c.95_100del | ENSP00000301732.5:p.Pro32_Leu33del | |
| ENST00000382381.7:c.95_100del | ENSP00000371818.3:p.Pro32_Leu33del | |
| ENST00000563623.5:n.658_663del | ||
| ENST00000567910.1:c.95_100del | ENSP00000454397.1:p.Pro32_Leu33del | |
| NM_001089.2:c.95_100del | NP_001080.2:p.Pro32_Leu33del | |
| NM_001089.3:c.95_100del MANE Select | NP_001080.2:p.Pro32_Leu33del |