Linked Data
dbSNP Id:
rs1567338456
gnomAD v2:
16-2335400-TG-T
gnomAD v4:
16-2285399-TG-T
MyVariant Identifiers:
chr16:g.2335401del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2285400del , CM000678.2:g.2285400del | GRCh38 |
| NC_000016.9:g.2335401del , CM000678.1:g.2335401del | GRCh37 |
| NC_000016.8:g.2275402del | NCBI36 |
| NG_011790.1:g.60347del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.3483+42del MANE Select | ENSP00000301732.5:n.3483+42del | |
| ENST00000301732.9:c.3483+42del | ENSP00000301732.5:n.3483+42del | |
| ENST00000382381.7:c.3309+42del | ENSP00000371818.3:n.3309+42del | |
| NM_001089.2:c.3483+42del | NP_001080.2:n.3483+42del | |
| NM_001089.3:c.3483+42del MANE Select | NP_001080.2:n.3483+42del |