Linked Data
dbSNP Id:
rs1567291358
gnomAD v2:
16-17232239-GAA-G
MyVariant Identifiers:
chr16:g.17232240_17232241del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17138383_17138384del , CM000678.2:g.17138383_17138384del | GRCh38 |
| NC_000016.9:g.17232240_17232241del , CM000678.1:g.17232240_17232241del | GRCh37 |
| NC_000016.8:g.17139741_17139742del | NCBI36 |
| NG_015843.1:g.337498_337499del | |
| NG_015843.2:g.337498_337499del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1735_1736del MANE Select | ENSP00000261381.6:p.Phe579GlnfsTer22 | |
| ENST00000261381.6:c.1735_1736del | ENSP00000261381.6:p.Phe579GlnfsTer22 | |
| NM_022166.3:c.1735_1736del | NP_071449.1:p.Phe579GlnfsTer22 | |
| XM_011522574.1:c.1735_1736del | XP_011520876.1:p.Phe579GlnfsTer22 | |
| XR_933141.1:n.316_317del | ||
| NR_135179.1:n.288_289del | ||
| XM_017023539.2:c.1735_1736del | XP_016879028.1:p.Phe579GlnfsTer22 | |
| XM_017023540.2:c.1735_1736del | XP_016879029.1:p.Phe579GlnfsTer22 | |
| NM_022166.4:c.1735_1736del MANE Select | NP_071449.1:p.Phe579GlnfsTer22 |