Linked Data
dbSNP Id:
rs767863628
ExAC:
16:28856387 GAAGGA / G
gnomAD v2:
16-28856387-GAAGGA-G
gnomAD v4:
16-28845066-GAAGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845074_28845078del , CM000678.2:g.28845074_28845078del | GRCh38 |
| NC_000016.9:g.28856395_28856399del , CM000678.1:g.28856395_28856399del | GRCh37 |
| NC_000016.8:g.28763896_28763900del | NCBI36 |
| NG_008964.1:g.6338_6342del | |
| NG_029706.2:g.3475_3479del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.415-16_415-12del MANE Select | ENSP00000322439.3:n.415-16_415-12del | |
| ENST00000313511.7:c.415-16_415-12del | ENSP00000322439.3:n.415-16_415-12del | |
| ENST00000565012.1:c.248-16_248-12del | ENSP00000455007.1:n.248-16_248-12del | |
| NM_003321.4:c.415-16_415-12del | NP_003312.3:n.415-16_415-12del | |
| XM_011545928.1:c.415-16_415-12del | XP_011544230.1:n.415-16_415-12del | |
| NM_001365360.1:c.415-16_415-12del | NP_001352289.1:n.415-16_415-12del | |
| NM_003321.5:c.415-16_415-12del MANE Select | NP_003312.3:n.415-16_415-12del | |
| NM_001365360.2:c.415-16_415-12del | NP_001352289.1:n.415-16_415-12del |