Linked Data
ClinVar Variation Id:
236418
ClinVar RCV Id:
RCV000225395
dbSNP Id:
rs878853329
ExAC:
8:55538034 TAGAA / T
gnomAD v2:
8-55538034-TAGAA-T
gnomAD v4:
8-54625474-TAGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54625480_54625483del , CM000670.2:g.54625480_54625483del | GRCh38 |
| NC_000008.10:g.55538040_55538043del , CM000670.1:g.55538040_55538043del | GRCh37 |
| NC_000008.9:g.55700593_55700596del | NCBI36 |
| NG_009840.1:g.14414_14417del | |
| NG_009840.2:g.14414_14417del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220676.2:c.1598_1601del MANE Select | ENSP00000220676.1:p.Arg533LysfsTer12 | |
| ENST00000636932.1:c.787+3192_787+3195del | ENSP00000489857.1:n.787+3192_787+3195del | |
| ENST00000637698.1:c.787+3192_787+3195del | ENSP00000490104.1:n.787+3192_787+3195del | |
| ENST00000220676.1:c.1598_1601del | ENSP00000220676.1:p.Arg533LysfsTer12 | |
| NM_006269.1:c.1598_1601del | NP_006260.1:p.Arg533LysfsTer12 | |
| XM_017013721.1:c.1619_1622del | XP_016869210.1:p.Arg540LysfsTer12 | |
| XM_017013722.1:c.1598_1601del | XP_016869211.1:p.Arg533LysfsTer12 | |
| NM_001375654.1:c.787+3192_787+3195del | NP_001362583.1:n.787+3192_787+3195del | |
| NM_006269.2:c.1598_1601del MANE Select | NP_006260.1:p.Arg533LysfsTer12 |