Linked Data
ClinVar Variation Id:
426658
ClinVar RCV Id:
RCV000490022
dbSNP Id:
rs779824367
gnomAD v2:
16-57009034-TTCAACACCAA-T
gnomAD v3:
16-56975122-TTCAACACCAA-T
gnomAD v4:
16-56975122-TTCAACACCAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56975123_56975132del , CM000678.2:g.56975123_56975132del | GRCh38 |
| NC_000016.9:g.57009035_57009044del , CM000678.1:g.57009035_57009044del | GRCh37 |
| NC_000016.8:g.55566536_55566545del | NCBI36 |
| NG_008952.1:g.18201_18210del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000200676.8:c.953_962del MANE Select | ENSP00000200676.3:p.Phe318SerfsTer? | |
| ENST00000200676.7:c.953_962del | ENSP00000200676.3:p.Phe318SerfsTer? | |
| ENST00000379780.6:c.773_782del | ENSP00000369106.2:p.Phe258SerfsTer? | |
| ENST00000566128.1:c.758_767del | ENSP00000456276.1:p.Phe253SerfsTer? | |
| NM_000078.2:c.953_962del | NP_000069.2:p.Phe318SerfsTer? | |
| NM_001286085.1:c.773_782del | NP_001273014.1:p.Phe258SerfsTer? | |
| NM_000078.3:c.953_962del MANE Select | NP_000069.2:p.Phe318SerfsTer? | |
| NM_001286085.2:c.773_782del | NP_001273014.1:p.Phe258SerfsTer? |