Linked Data
ClinVar Variation Id:
1361633
ClinVar RCV Id:
RCV001931889
dbSNP Id:
rs747832575
ExAC:
8:10480276 TC / T
gnomAD v2:
8-10480276-TC-T
gnomAD v3:
8-10622766-TC-T
gnomAD v4:
8-10622766-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622768del , CM000670.2:g.10622768del | GRCh38 |
| NC_000008.10:g.10480278del , CM000670.1:g.10480278del | GRCh37 |
| NC_000008.9:g.10517688del | NCBI36 |
| NG_028035.1:g.37341del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.435del MANE Select | ENSP00000371923.3:p.Lys146ArgfsTer11 | |
| ENST00000329335.3:n.685del | ||
| ENST00000382483.3:c.435del | ENSP00000371923.3:p.Lys146ArgfsTer11 | |
| NM_178857.5:c.435del | NP_849188.4:p.Lys146ArgfsTer11 | |
| NM_178857.6:c.435del MANE Select | NP_849188.4:p.Lys146ArgfsTer11 |